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Distrofia Muscolare (MD) – Cavalier King Charles Spaniel

La distrofia muscolare (MD) è una malattia muscolare legata all’X, equivalente alla distrofia muscolare di Duchenne (DMD) nell’uomo. Il disturbo è grave e alla fine fatale e provoca un progressivo degrado dei muscoli del cane. È causata da una mutazione recessiva legata al cromosoma X del gene DMD.

La variante analizzata in questo test si trova nel Cavalier King Charles Spaniel, ed è talvolta nota come distrofia muscolare del Cavalier King Charles Spaniel (CKCS-MD).

Carenza MCAD – Cavalier King Charles Spaniel

L’acil-CoA deidrogenasi a catena media (MCAD) è un enzima che aiuta l’organismo a elaborare gli acidi grassi a catena media, costituendo una parte fondamentale del metabolismo di un animale. Una mutazione recessiva del gene ACADM causa un deficit di MCAD (MCADD). Ciò si traduce in un accumulo di acidi grassi a catena media, causando sintomi neurologici come affaticamento e convulsioni. Nei cani, la carenza di MCAD si riscontra nel Cavalier King Charles Spaniel.

Macrotrombocitopenia (MTC) – Cavalier King Charles Spaniel

Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder characterized by a reduced number of blood platelets (thrombocytes), many of which are enlarged. Thrombocytes play an essential role in blood clotting (coagulation). Mutations in the ß1‑tubulin (TUBB1) gene have been identified as the cause of this reduction. Depending on the specific variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test occurs in the Cavalier King Charles Spaniel and is caused by a recessive mutation in TUBB1. This form is generally considered mild: affected dogs often show low platelet counts and enlarged platelets, but many remain clinically healthy without spontaneous bleeding problems.
A related mutation has been identified in the Norfolk Terrier and Cairn Terrier. This version is regarded as more severe, with affected dogs more likely to show clinical signs such as prolonged bleeding times, petechiae, or bruising.

CombiBreed Cavalier King Charles Spaniel

Questo pacchetto combinato è progettato per fornirti informazioni vitali sulla salute genetica, i tratti e la diversità del tuo cane e include test del DNA per numerose malattie e/o tratti importanti. Inoltre, calcoliamo anche il Coefficiente di Consanguineità (COI) e la percentuale di Eterozigosi del DNA del tuo cane. Il COI mostra il grado di consanguineità del tuo cane, mentre la percentuale di eterozigosi è una misura della diversità genetica individuale del tuo cane.

Le informazioni sui singoli test di questo pacchetto sono disponibili nella sezione “Test inclusi” di questa pagina. Accettiamo campioni da animali di qualsiasi età. Normalmente, il tempo di consegna dei test eseguiti presso le nostre strutture è di 10 giorni lavorativi dal ricevimento del campione. Per i test esternalizzati, i cosiddetti “laboratori esterni” o “laboratori esterni di brevetti”, il tempo di consegna è di almeno 20 giorni lavorativi dal ricevimento del campione. Si prega di notare che i 20 giorni lavorativi menzionati sono una stima, poiché i tempi di spedizione a questi laboratori esterni o strutture di brevetto possono variare a causa di ritardi imprevisti.

Alcuni test inclusi vengono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come cliente e il laboratorio esterno. In questi casi, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.

Roan

Roan is a white patterning coat colour trait of intermixed white and coloured hairs in the body while the head, lower legs, mane and tail remain colored. Roan horses are born with the pattern, though it may not be obvious until the foal coat is shed. The white and coloured hairs are evenly mixed in horses that inherit the classic Roan gene, which can differentiate this from several mimic patterns called roaning. Roaning patterns tend to be uneven in the distribution of white hairs and the inheritance of roaning has not been defined. The mutation causing the Roan coat colour has not yet been identified. The Coat Roan test (P659) tests for DNA markers that are associated with Roan coat colour in several breeds, the DNA markers can be used to determine if a horse has the Roan mutation and how many copies. This test detects three variants (alleles), Rn, Rn* and N. The allele Rn is dominant. One or two copies of the Rn allele result in a Roan coat colour. The allele Rn* is very uncommon and not always associated with the Roan coat colour, this allele has only been observed in Tennessee Walking horses and Rocky Mountain horses. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Roan test encloses the following results, in this scheme the results of the Coat Colour Roan test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Roan	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Roan. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Roan. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Roan. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
Rn/N	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn*/N	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	One copy of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	One copy of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + a/a	Black or Black Roan	One copy of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	Two copies of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay Roan	Two copies of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + a/a	Black Roan	Two copies of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn*	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	Two copies of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	Two copies of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + a/a	Black or Black Roan	Two copies of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.

Dun dilution

The Dun dilution gene lightens the coat colour of the horse by lightening the body colour, leaving the head, lower legs, mane and tail undiluted. Dun is also typically characterized by “primitive markings”, allmost all dun horses possess at least the dorsal stripe, but the presence of the other primitive markings varies. Other common markings may include horizontal striping on the legs, transverse striping across the shoulders, and lighter guard hairs along the edges of a dark mane and tail. Dun diluted coat colour with primitive markings is considered the “wild-type” colour and is found in wild equids such as przewalski horses. Dun dilutes both red and black pigment, and the resulting colors range from apricot, golden, dark gray, olive and many more subtle variations. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Dun dilution test (P660) tests for the genetic status of the TBX3 gene. This gene has three variants (alleles); allele D is dominant over the alleles nd1 and nd2; allele nd1 is dominant over nd2. The dominant allele D results in Dun dilution with primitive markings. Allele nd1 does not dilute the coat colour of the horse, primitive markings are present but the expression is variable. Allele nd2 does not have an effect on the basic colour.

The Coat Colour Dun dilution test encloses the following results, in this scheme the results of the Coat Colour Dun dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dun dilution	Result Chestnut + Agouti	Coat Colour	Description
nd2/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + A/A or A/a	Bay, Brown. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + a/a	Black. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd1/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + a/a	Black. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd1	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + a/a	Black. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
D/nd2	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd1	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/D	e/e + A/A, A/a or a/a	Red dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + A/A or A/a	Bay, Classic, Zebra dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + a/a	Blue, Mouse dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.

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Dominant White 3

White patterning in horses is known as Dominant White or White. Dominant White patterns are variable, ranging from minimal Sabino-like spotting to all-white horses. The eye colour of Dominant White horses is brown. There are about 20 different mutations identified that are associated with white patterns, all mutations are found in the KIT gene. Except for W20, most of the known Dominant White mutations arose recently and are restricted to specific lines within breeds. The Coat Colour Dominant White 3 test (P592) tests for the mutation known as W20 in the KIT gene. This test detects two variants (alleles). The allele W20 is dominant. One or two copies of the W20 allele have a subtle effect on the amount of white expressed. It appears to increase the expression of white in combination with other white pattern genes. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Dominant White 3 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 3 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 3	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
W20/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.

Sabino 1

Sabino is a general description for a group of similar white spotting patterns. The sabino pattern is described as irregular spotting usually on the legs, belly and face, often with roaning around the edges of the white markings. A mutation has been discovered that produces one type of sabino pattern, it has been named Sabino1 as it is not present in all sabino-patterned horses. More mutations will probably exist that account for other sabino patterns. The Coat Colour Sabino 1 test (P785) tests for the genetic status of the KIT gene. This gene has two variants (alleles). The allele SB1 is semi-dominant. One copy of the SB1 allele results in horses with broken Sabino markings and possibly only a small amount of white. Two copies of the SB1 allele result in at least 90% white, also referred to as Sabino-white. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Sabino 1 test encloses the following results, in this scheme the results of the Coat Colour Sabino 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Sabino 1	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Sabino 1. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Sabino 1. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Sabino 1. The basic colour is not black modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
SB1/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.

Distrofia Muscolare Congenita (CMD) – Piccolo levriero italiano (Italian Greyhound)

La distrofia muscolare congenita (CMD o MD) è un disturbo muscolare che causa atrofia e scarsa crescita. Questa particolare variante della malattia è causata da una mutazione recessiva del gene LAMA2. La variante analizzata in questi test si verifica nel levriero italiano. Una variante correlata si verifica anche nello Staffordshire Bull Terrier.

Tobiano

The Tobiano coat pattern usually involves white on all four legs below the hocks and knees and rounded white spots on the body with sharp, clean edges. The head is dark, with white markings like those of a solid colored horse. The white on the body will generally cross the top-line of the horse. The skin underlying the white spots is pink and under the colored areas it is black. The eyes are usually brown, but one or both may be blue or partially blue. The tail can be two colors, a characteristic seldom seen in horses that are not tobiano. A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Tobiano test (P903) tests for a genetic factor that affects the function of the KIT gene. This gene has two variants (alleles). The dominant allele TO results in the Tobiano pattern and the recessive allele N does not have an effect on the basic colour.

The Coat Colour Tobiano test encloses the following results, in this scheme the results of the Coat Colour Tobiano test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Tobiano	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Tobiano. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Tobiano. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Tobiano. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	One copy of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	One copy of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + a/a	Black tobiano	One copy of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
TO/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	Two copies of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	Two copies of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + a/a	Black tobiano	Two copies of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.

Dominant White 1

White patterning in horses is known as Dominant White or White. Dominant White patterns are variable, ranging from minimal Sabino-like spotting to all-white horses. The eye colour of Dominant White horses is brown. There are about 20 different mutations identified that are associated with white patterns, all mutations are found in the KIT gene. Except for W20, most of the known Dominant White mutations arose recently and are restricted to specific lines within breeds. The Coat Colour Dominant White 1 test (P591) tests for the mutation known as W18 in the KIT gene. This test detects two variants (alleles). The allele W18 is dominant. One or two copies of the W18 allele result in horses that display some degree of white spotting but the specific pattern cannot be predicted. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Dominant White 1 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 1	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
W18/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.

Cream dilution

The cream dilution gene has an effect on both red and black pigment and dilutes the basic coat colour to lighter coat shades. In several breeds this is considered a desirable trait. The Cream dilution gene is responsible for the palomino, buckskin, smoky black, cremello, perlino and smoky cream coat colours. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Cream dilution test (P713) tests for the genetic status of the MATP gene. The MATP gene has two variants (alleles). The allele Cr is semi-dominant. One copy of the Cr allele dilutes the coat colour with a single dose, resulting in palomino, buckskin or smoky black. Two copies of the Cr allele dilute the coat colour with a double dose into cremello, perlino or smoky cream. The effect on black pigment might be very subtle. Horses with two copies of the Cr allele are also called “double-dilutes” or “blue-eyed cream” and they share a number of characteristics. The eyes are pale blue, paler than the unpigmented blue eyes associated with white color or white markings, and the skin is rosy-pink. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Cream dilution test encloses the following results, in this scheme the results of the Coat Colour Cream dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Cream dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour is bay or brown unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour is black unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Cr	e/e + A/A, A/a or a/a	Palomino	Heterozygous dilute, one copy of the Cr allele. The basic coat colour chestnut/sorrel is diluted to palomino. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + A/A or A/a	Buckskin	Heterozygous dilute, one copy of the Cr allele. The basic coat colour bay/brown is diluted to buckskin. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + a/a	Smoky Black	Heterozygous dilute, one copy of the Cr allele. The basic coat colour black is diluted to Smoky Black. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
Cr/Cr	e/e + A/A, A/a or a/a	Cremello	Double dilute, two copies of the Cr allele. The basic coat colour chestnut/sorrel is diluted to Cremello. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + A/A or A/a	Perlino	Double dilute, two copies of the Cr allele. The basic coat colour bay/brown is diluted to Perlino. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + a/a	Smoky Cream	Double dilute, two copies of the Cr allele. The basic coat colour black is diluted to Smoky Cream. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.

Champagne dilution

The Champagne dilution gene lightens the coat colour of the horse by diluting the pigment. The skin of Champagne-diluted horses is pinkish/lavender toned and becomes speckled with age; the speckling is particularly noticeable around the eye, muzzle, under the tail, udder and sheath. The eye colour is blue-green at birth and darkens to amber as the horse ages. Champagne has the following effects on the basic coat colours of horses:

Chestnut/Sorrel -> Gold champagne: a gold body color and often a flaxen mane and tail. Gold champagne horses are visually similar to palomino horses.

Bay/Brown -> Amber champagne: a tan body color with brown points (sometimes referred to as amber Buckskin).

Black -> Classic champagne: a darker tan body with brown points.

A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Champagne dilution test (P853) tests for the genetic status of the SLC36A1 gene. This gene has two variants (alleles). The dominant allele Ch results in the dilution and the recessive allele N does not have an effect on the basic colour.

The Coat Colour Champagne dilution test encloses the following results, in this scheme the results of the Coat Colour Champagne dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Champagne dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Ch	e/e + A/A, A/a or a/a	Gold Champagne	One copy of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to gold champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + A/A or A/a	Amber Champagne	One copy of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + a/a	Classic Champagne	One copy of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
Ch/Ch	e/e + A/A, A/a or a/a	Gold Champagne	Two copies of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to Gold Champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + A/A or A/a	Amber Champagne	Two copies of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + a/a	Classic Champagne	Two copies of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.

Pearl dilution

The Pearl dilution gene lightens the coat colour of the horse by diluting the red pigment. A chestnut basic colour is diluted to a pale, uniform apricot colour of body, mane and tail. Skin coloration is also pale. Pearl dilution is also referred to as the ‘Barlink Factor.’ The Coat Colour Pearl dilution test (P783) tests for the genetic status of the SLC45A2 gene. This gene has two variants (alleles). The allele Prl, causing the Pearl dilution is recessive. This means that only horses with two copies of the Prl allele have a lightened coat, mane and tail, in addition to bright eye colors. The dominant allele N does not have an effect on the basic coat colour.

Pearl dilution interacts with Cream dilution to produce pseudo-double dilute phenotypes including pale skin and blue/green eyes. Therefore if a horse has one copy of the Prl allele and Cream dilution (Cr allele) is also present, this results in a pseudo-double dilute, also called pseudo-cremellos or pseudo-smoky cream

A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Pearl dilution test encloses the following results, in this scheme the results of the Coat Colour Pearl dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Pearl dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring
N/Prl	e/e + A/A, A/a or a/a	Chestnut, Sorrel	One copy of the recessive Prl allele. The basic colour chestnut/sorrel is not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
N/Prl	E/E or E/e + A/A or A/a	Bay, Brown	One copy of the recessive Prl allele. The basic colour bay/brown is not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
N/Prl	E/E or E/e + a/a	Black	One copy of the recessive Prl allele. The basic colour black not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
Prl/Prl	e/e + A/A, A/a or a/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour chestnut/sorrel is diluted to a pale, uniform apricot colour of body hair, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.
Prl/Prl	E/E or E/e + A/A or A/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour bay/brown is diluted to lightened coat, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.
Prl/Prl	E/E or E/e + a/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour black is diluted to lightened coat, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.

Silver dilution / MCOA

The Silver dilution gene dilutes the black pigment but has no effect on the red pigment. The effect of the Silver dilution gene can vary greatly. The mane and tail are lightened to flaxen or silver gray, and may darken on some horses as they age. A black horse will be diluted to chocolate with a lightened mane and tail. A Bay horse with Silver dilution will usually have a lightened mane and tail, as well as lightened lower legs (places with black pigment). A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Silver dilution test (P784) tests for the genetic status of the PMEL17 gene. This gene has two variants (alleles). The dominant allele Z results in the dilution and the recessive allele N does not have an effect on the basic colour.

The same mutation responsible for the coat color Silver is also associated with Multiple Congenital Ocular Anomalies (MCOA) Syndrome, a wide range of ocular defects that occur in the anterior and posterior parts of the eye. The severity of the syndrome is dose related, so horses with 1 copy of allele Z have fewer severe signs than those with 2 copies of allele Z.

The Coat Colour Silver dilution test encloses the following results, in this scheme the results of the Coat Colour Silver dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Silver dilution	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Z	e/e + A/A, A/a or a/a	Chestnut, Sorrel	One copy of the dominant Z allele. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
N/Z	E/E or E/e + A/A or A/a	Silver dilution on Bay or Brown	One copy of the dominant Z allele. The black pigment of bay/brown horses on lower legs is lightened and mane and tail are lightened to flaxen. The colour can be further modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
N/Z	E/E or E/e + a/a	Chocolate	One copy of the dominant Z allele. The basic colour black is diluted to chocolate with flaxen mane and tail. The colour can be further modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
Z/Z	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Two copies of the dominant Z allele. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele Z to its offspring.
Z/Z	E/E or E/e + A/A or A/a	Silver dilution on Bay or Brown	Two copies of the dominant Z allele. The black pigment of bay/brown horses on lower legs is lightened and mane and tail are lightened to flaxen. The colour can be further modified by other colour modifying genes. It can only pass on allele Z to its offspring.
Z/Z	E/E or E/e + a/a	Chocolate	Two copies of the dominant Z allele. The basic colour black is diluted to chocolate with flaxen mane and tail. The colour can be further modified by other colour modifying genes. It can only pass on allele Z to its offspring.

Splashed White 3

Splashed white is a variable white spotting pattern characterized by a large blaze, extended white markings on legs, variable white spotting on belly, pink skin and often blue eyes. In other cases, the unpigmented areas are quite small and cannot be distinguished from horses with other more subtle depigmentation phenotypes. Splashed white horses are sometimes deaf, however most splashed white horses are not deaf. Hearing loss is due to the death of the necessary hair cells, caused by the absence of melanocytes in the inner ear. Although the majority of splash horses have pigment around the outside of the ear, the pigment must occur in the inner ear to prevent hearing loss. There are several different mutations identified that are associated with splashed white patterns. The Coat White Spotting 3 test (P514) tests for the mutation known as SW3 in the MITF gene. This test detects two variants (alleles). The allele SW3 is dominant. One or two copies of the SW3 allele result in splashed white. It is speculated that two copies of the SW3 allele are lethal (the foal dies). The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour White Spotting 3 test encloses the following results, in this scheme the results of the Coat Colour White Spotting 3 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result White Spotting 3	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Splashed White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Splashed White The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Splashed White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/SW3	e/e + A/A, A/a or a/a	Chestnut/sorrel with Splashed White pattern	Splashed White pattern. One copy of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW3 to its offspring.
N/SW3	E/E or E/e + A/A or A/a	Brown/bay with Splashed White pattern	Splashed White pattern. One copy of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW3 to its offspring.
N/SW3	E/E or E/e + a/a	Black with Splashed White pattern	Splashed White pattern. One copy of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW3 to its offspring.
SW3/SW3	e/e + A/A, A/a or a/a	Chestnut/sorrel with Splashed White pattern	Splashed White pattern. Two copies of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW3 to its offspring.
SW3/SW3	E/E or E/e + A/A or A/a	Brown/bay with Splashed White pattern	Splashed White pattern. Two copies of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW3 to its offspring.
SW3/SW3	E/E or E/e + a/a	Black with Splashed White pattern	Splashed White pattern. Two copies of the SW3 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW3 to its offspring.

Splashed White 1

Splashed white is a variable white spotting pattern characterized by a large blaze, extended white markings on legs, variable white spotting on belly, pink skin and often blue eyes. In other cases, the unpigmented areas are quite small and cannot be distinguished from horses with other more subtle depigmentation phenotypes. Splashed white horses are sometimes deaf, however most splashed white horses are not deaf. Hearing loss is due to the death of the necessary hair cells, caused by the absence of melanocytes in the inner ear. Although the majority of splash horses have pigment around the outside of the ear, the pigment must occur in the inner ear to prevent hearing loss. There are several different mutations identified that are associated with splashed white patterns. The Coat White Spotting 1 test (P512) tests for the mutation known as SW1 in the MITF gene. This test detects two variants (alleles). The allele SW1 is dominant. One or two copies of the SW1 allele result in splashed white. The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour White Spotting 1 test encloses the following results, in this scheme the results of the Coat Colour White Spotting 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result White Spotting 1	Result Chestnut + Agouti	Coat Colour	Description
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Splashed White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Splashed White The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Splashed White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/SW1	e/e + A/A, A/a or a/a	Chestnut/sorrel with Splashed White pattern	Splashed White pattern. One copy of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW1 to its offspring.
N/SW1	E/E or E/e + A/A or A/a	Brown/bay with Splashed White pattern	Splashed White pattern. One copy of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW1 to its offspring.
N/SW1	E/E or E/e + a/a	Black with Splashed White pattern	Splashed White pattern. One copy of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or SW1 to its offspring.
SW1/SW1	e/e + A/A, A/a or a/a	Chestnut/sorrel with Splashed White pattern	Splashed White pattern. Two copies of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW1 to its offspring.
SW1/SW1	E/E or E/e + A/A or A/a	Brown/bay with Splashed White pattern	Splashed White pattern. Two copies of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW1 to its offspring.
SW1/SW1	E/E or E/e + a/a	Black with Splashed White pattern	Splashed White pattern. Two copies of the SW1 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele SW1 to its offspring.

Appaloosa Pattern-1 (PATN1)

The Appaloosa spotting pattern, also known as Leopard Complex spotting (LP) includes a highly variable group of white spotting- or depigmentation patterns in horses. Appaloosa horses have three additional identifiable characteristics: mottled skin around the muzzle, anus and genitalia, striped hooves and white sclera round the eyes. LP is the result of an incompletely dominant mutation in the TRPM1 gene, also known as the LP gene. The LP gene allows for the expression of the various leopard complex spotting patterns while other genes determine the extent (or amount) of white. One of the genes that is associated with increased amount of white in in LP horses has been identified (RFWD3) and has been termed Pattern-1 (PATN1) for first pattern gene. The Coat Colour Appaloosa Pattern-1 (PATN1) test (P305) tests for the status of the PATN1 gene. This gene has two variants (alleles). The dominant allele PATN1 results in an increased amount of white in horses that carry at least one copy of the LP allele on the LP gene. The recessive allele N does not have an effect on the basic colour. Horses that have one copy of the LP allele, in combination with at least one copy of the PATN1 allele most often have a Leopard or a near Leopard pattern. Horses that have two copies of the LP allele in combination with at least one copy of the PATN1 allele most often have a Few-spot or near Few spot pattern. Horses that have at least one copy of the PATN1 allele but do not have a copy of the LP allele will not have a Appaloosa spotting pattern but can pass on the PATN1 allele to their offspring.

The Coat Colour Appaloosa Pattern-1 (PATN1) test encloses the following results, in this scheme the results of the Coat Colour Appaloosa Pattern-1 (PATN1) test are shown in combination with the possible results for the LP Gene.

Result PATN1	Result LP	Coat Colour	Description
N/N	N/N	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	N/LP	Blanket appaloosa	It can only pass on allele N to its offspring.
N/N	LP/LP	Snow cap appaloosa	It can only pass on allele N to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB).
N/PATN1	N/N	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can pass on either allele N or PATN1 to its offspring.
N/PATN1	N/LP	Leopard or a near Leopard pattern	It can pass on either allele N or PATN1 to its offspring.
N/PATN1	LP/LP	Few-spot or near Few spot pattern.	It can pass on either allele N or PATN1 to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB).
PATN1/PATN1	N/N	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele PATN1 to its offspring.
PATN1/PATN1	N/LP	Leopard or a near Leopard pattern	It can only pass on allele PATN1 to its offspring.
PATN1/PATN1	LP/LP	Few-spot or near Few spot pattern	It can only pass on allele PATN1 to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB).

CSNB / Leopard Spotting

The Appaloosa spotting pattern, also known as Leopard Complex spotting (LP) includes a highly variable group of white spotting- or depigmentation patterns in horses. Appaloosa horses have three additional identifiable characteristics: mottled skin around the muzzle, anus and genitalia, striped hooves and white sclera round the eyes. The Appaloosa pattern is the result of an incompletely dominant mutation in the TRPM1 gene, also known as the LP gene. The LP gene allows for the expression of the various leopard complex spotting patterns while other genes determine the extent (or amount) of white. The CSNB / Leopard Spotting test (P311) tests for the status of the LP (TRPM1) gene. This gene has two variants (alleles). The allele LP is incomplete-dominant and expression of the Appaloosa pattern is variable, ranging from absent to extremely white patterning. At least one copy of the LP allele allows the expression of the Appaloosa pattern. The amount of white present is not dosage related, horses with two copies of the LP allele can have minimal expression of white patterning. The recessive allele N does not have an effect on the basic colour. The variability in the amount of white on Appaloosa-coloured horses is controlled by other genes, one of which is PATN1. Horses that have one copy of the LP allele, in combination with at least one copy of the PATN1 allele most often have a Leopard or a near Leopard pattern. Horses that have two copies of the LP allele in combination with at least one copy of the PATN1 allele most often have a Few-spot or near Few spot pattern. Horses that have two copies of the LP allele suffer from Congenital Stationary Night Blindness (CSNB), which is the inability to see in low to no-light conditions.

The CSNB / Leopard Spotting test encloses the following results, in this scheme the results of the CSNB / Leopard Spotting test are shown in combination with the possible results for the Coat Colour Appaloosa Pattern-1 (PATN1) test.

Result LP	Result PATN1	Coat Colour	Description
N/N	N/N	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/LP	N/N	Blanket appaloosa	It can pass on either allele N or LP to its offspring.
LP/LP	N/N	Snow cap appaloosa	It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)
N/N	N/PATN1	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring..
N/LP	N/PATN1	Leopard or a near Leopard pattern	It can pass on either allele N or LP to its offspring.
LP/LP	N/PATN1	Few-spot or near Few spot pattern.	It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)
N/N	PATN1/PATN1	No Appaloosa	The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/LP	PATN1/PATN1	Leopard or a near Leopard pattern	It can pass on either allele N or LP to its offspring.
LP/LP	PATN1/PATN1	Few-spot or near Few spot pattern	It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)

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