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Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement. The disorder is caused by a mitochondrial mutation to the gene CYTB, and is found in the Australian Cattle Dog and the Shetland Sheepdog.
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. |
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. |
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 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 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. |
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). |
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) |
Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism. A recessive mutation to the gene ACADM causes an MCAD deficiency. This results in a build-up of medium-chain fatty acids, causing neurological symptoms such as fatigue and seizures. In dogs, MCAD Deficiency is found in the Cavalier King Charles Spaniel.
Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs. This variant of the disorder, Cone-Rod Dystrophy, Type 2 (crd2, or crd2-PRA) is found in the American Pit Bull Terrier. It is caused by a recessive mutation to the gene IQCB1. A similar variant of the disease, called crd1, occurs in the American Staffordshire Terrier.
Canine Leukocyte Adhesion Deficiency (CLAD) is a fatal immunodeficiency disease. It is a genetic condition caused by specific mutations in genes crucial for platelet and blood cell functions. These mutations result in abnormal blood clotting and immune system responses in affected dogs. This variant of the disease, CLAD Type I, is caused by a recessive mutation in the ITGB2 gene, which encodes the leukocyte integrin beta-2 subunit (CD18). The disease is found in the Irish Setter.
Since the 19th century experiments have been conducted on the heredity of various organisms. The heredity was determined by observations of organisms – that the next generation gets one copy from each factor from each parent, and subsequently passing the factor on to following generations (Durmaz et al., 2015). The factors include for example colour, height, or shape of the organism. Pioneers Gregor Mendel and Augustinian Friar were scientist studying genetics scientifically. Gregor Mendel performed breeding experiments with hybridizing pea plants, in which different traits were traced. The traits included colour of the plants and round or wrinkled peas. The pioneer, after reporting the first breeding experiments, died in 1884. Little did he know that he would end up in biology textbooks.
Astounding results were observed by Mendel, the scientist saw traits were independently transmitted from each other (Dijk, Weissing, & Ellis, 2018). The independent transmission of traits is based on the position of genes on the corresponding chromosome. The progeny receives half of the chromosomes of both parents. If the gene is positioned on a chromosome – which is not passed down the lineage – the progeny does not express the gene. Therefore, if an experiment is conducted on various traits encoded by the corresponding genes. The progeny expresses different variation of traits in contrast to the parents.
Although, Mendel started the experiments on heredity of organisms. The scientist did not introduce the words “genetics” or “gene”. Later in the 20th, the scientific community century begun to focus on more breeding related experiments, and thereby referring to the results indicated by Mendel. The heredity of organisms would be called “genetics” and the factor that expresses the trait of a species was described as “gene” (Portin, Wilkins, 2017). It was the start of a new discipline in the scientific community.
The introduction of the study genetics leaded to genetic research on a more molecular level. The molecular level experiments were more focussed on the structure and biosynthetic pathways that are needed to express a certain trait. In the first stages of genetic research on various structures and biosynthetic pathways, scientists suggested corresponding proteins were responsible for the induction of the perceived traits. However, following-up research leaded to the – todays well known double helix structured DNA – to be the encoding factor that expresses the perceiving trait.
Nowadays, DNA structures, which have the typical double helix structure, are seen everywhere. Genetic research elucidated more specification on the structure of the DNA strand and stated DNA was an information molecule (Travers & Muskhelishvili, 2015). The DNA strands are made up of so called “nucleic acids”, which are based on four nucleotides adenine (A), thymine (T), cytosine (C) and guanine (G). Groups of nucleic acids, three nucleotides, encode for the amino acids and amino acids are consecutive the basis of entire chromones. As it has been highlighted in modern society are the Homo Sapiens exist of 46 chromosomes. The chromosomes are the building blocks of the human genome.
Progressive research broadened the insights on the DNA structures of various species. The DNA structure consists of information molecules, which encode for structural or active biosynthetic systems were the organisms are made up on. Genetic research has indicated changes on the prescribed encoded DNA strand. The changes are called mutations. Mutations are alterations in the DNA strand. The mutations can change a trait such as eye colour, skin colour or height. These traits are all observative characteristics that can be seen by the eye, also called phenotypes. Therefore, when a gene is mutated, the phenotype also changes. Besides, there are non-observative characteristics, which are alternation of the gene that are not visible by the human eye. Mutation for example organ failures, diabetes, or heart defects.
Mutations are commonly experienced as something that should not occur. However, there are multiple outcomes at alternations of DNA, the mutation did not express in a coding region, and therefore no phenotypical changes are witnessed. The alternation has taken place in an active coding region, and subsequently effecting the phenotype of an organism. These are the most common interpretations of DNA alternations.
Implementations of DNA mutations is commonly used in modern society. DNA mutation can be used as genetic markers for the identification of genetic variation, hereditary carriers and dominant inherent. Genetic variation in animals is experienced in everyday life, since every animal has a unique genotype that encodes for a unique phenotype that can be seen. Heredity carriers are more scientifically substantiated as where in the phenotype is not visible by the human eye. In general, the terms recessive and dominant are mostly used. Recessive means the organism has inherited the recessive allele (certain region of DNA) and dominant indicates the organisms has inherited the dominant allele.
The hereditary carrier is an organism which has inherited a recessive allele for a specific trait, but generally does not express the trait. Although the trait is not expressed by the organism, the organism is able to pass the allele on to the next generation. This way, a specific mutation can be present in multiple generations without noticing. Another possibility is in which the organisms have a dominant inherited allele. When an organism has a dominant and recessive allele for a specific allele, the dominant allele will be expressed. Nevertheless, if a hereditary carrier inherits a recessive allele for the specific trait it carries. This will result in the expression of the inhibited trait.
The well-known Punnet Square identifies the percentual change of an organism to be homozygote dominant (AA), homozygote recessive (aa) or heterozygote (Aa) (Edwards, 2012). If both parents are carriers and heterozygote the outcome would be 25% homozygote, 25% homozygote and 50% heterozygote. Resulting an allele mutation on the dominate allele would lead to 75% expression on the next generation. However, if the allele mutation was on the recessive allele only 25% of the next generation would express the recessive allele. In addition, spontaneous alternations can also cause genetic variation on alleles, and therefore lead to unexpected results. As for example the Punnet square is used to determine the percentual chance of the lineages genotype. A spontaneous alternation can change a phenotype, for example the hair colour. The linage can have different phenotypes then the ancestors if the breeding continues with the mutation.
Alleles are specific regions on the chromosome of an organism. The chromosome can be visualized using the technique karyotyping. During karyotyping all the chromosomes are coloured, and subsequently counted and examined using a microscope. Malfunctions in the chromosome assembly can be identified as irregularity of chromosomes or sometimes the number of chromosomes can be reduced or increased. Karyotyping is one of VHLGenetics genotyping techniques.
VHLGenetics DNA testing is performed at two laboratories. The head office is in Wageningen, the other laboratory is in Germany. DNA tests are performed under various accreditations, certifications, and memberships of organizations such as ICAR and IS. The main goal of VHLGenetics is to provide optimal DNA services for their customers. The core competence is the standardization of work processes in the laboratories. This while remaining flexibility in adding new tests and technologies to the portfolio. The DNA services have been developed from knowledge and experience gained in the last 30 years. DNA services are offered in a wide variety including plants and animals. The service involves mainly KASP, real-time PCR, capillary electrophoresis, and Thermo Fisher Scientific Targeted Genotyping by Sequencing®.
La neuropatia di Charcot-Marie-Tooth (CMT) è un gruppo di disturbi neurologici ereditari che colpiscono il sistema nervoso periferico. Una mutazione autosomica recessiva in un gene chiamato recettore dell’inositolo 1,4,5-trisfosfato di tipo 3 (ITPR3) è stata collegata alla CMT. Il gene ITPR3 è coinvolto nella regolazione del rilascio di calcio dalle riserve cellulari interne, che è fondamentale per la funzione delle cellule nervose. Quando questo gene è mutato, può portare alla degenerazione dei nervi periferici, influenzando la comunicazione tra il cervello e i muscoli. Questa variante di CMT si trova nella razza Lancashire Heeler.
Dominant White (DW) and White Spotting (Ws) are controlled by the KIT-gene. Dominant white is also described as the W-locus and White Spotting as the S-locus. The KIT-gene has three variants (alleles). The DW allele is dominant over the alleles Ws and N (Normal); allele Ws is dominant over allele N.
I cani con displasia scheletrica oculare (OSD) mostrano una varietà di malformazioni scheletriche, causate da una mutazione recessiva del gene COL9A3. Una variante correlata si verifica anche nel Labrador Retriever. L’OSD è spesso accompagnata da anomalie oculari, come nel caso del cane Inuit settentrionale. Queste anomalie oculari sono causate da un disturbo del collagene chiamato displalsia della retina (RD) o pieghe retiniche.
Each horse has a basic colour, which can be black, bay/brown or chestnut. These basic coat colours are controlled by the Extension and Agouti genes. The Agouti gene (A-locus) controls the distribution of black pigment. The pigment can be uniformly distributed or distributed to the “points” of the body (mane, tail, lower legs and inside the ears). The Agouti gene has no effect on horses that are homozygous ee for the Extension gene as black pigment has to be present for agouti to have an effect. The Coat Colour Agouti test (P907) tests for the genetic status of the Agouti gene. The Agouti gene has two variants (alleles). The dominant allele A restricts black pigment to the points of the horse (for example in bays and buckskins) and the recessive allele a uniformly distributes black pigment over the entire body. Only when the horse has two copies of the recessive allele a (homozygous aa), the black pigment is evenly distributed. The black pigment is distributed into the points if at least one copy of the allele A is present. All horses, regardless of their coat colour do have the genetics for the distribution of black pigment, but it’s not always physically visible.
The Coat Colour Agouti test encloses the following results, in this scheme the results of the Coat Colour Agouti test are shown in combination with the possible results for the Coat Colour Chestnut test:
|
Result Agouti |
Result Chestnut |
Coat Colour |
Description |
|---|---|---|---|
|
a/a |
E/E or E/e |
Black |
Only the recessive allele a was detected. The black pigment is distributed uniformly. If the horse is not e/e for the Extension gene, the basic colour is black unless modified by other colour modifying genes. It can only pass on allele a to its offspring. |
|
a/a |
e/e |
Chestnut, Sorrel |
Only the recessive allele a was detected. The black pigment is distributed uniformly. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele a to its offspring. |
|
A/a |
E/E or E/e |
Bay, Brown |
The horse is tested heterozygous for Agouti. The black pigment is distributed into the points. If the horse is not e/e for the Extension gene, the basic colour is bay or brown unless modified by other colour modifying genes. It can pass on either allele A or a to its offspring. |
|
A/a |
e/e |
Chestnut, Sorrel |
The horse is tested heterozygous for Agouti. The black pigment is distributed into the points. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can pass on either allele A or a to its offspring. |
|
A/A |
E/E or E/e |
Bay, Brown |
Only the dominant allele A was detected. The black pigment is distributed into the points. If the horse is not e/e for the Extension gene, the basic colour is bay or brown unless modified by other colour modifying genes. It can only pass on allele A to its offspring and therefore cannot produce black foals. |
|
A/A |
e/e |
Chestnut, Sorrel |
Only the dominant allele A was detected. The black pigment is distributed into the points. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele A to its offspring and therefore cannot produce black foals. |
A horse that inherits a Grey coat colour can be born in any colour. The grey gene causes progressive depigmentation (fading) of the hair and is considered to be the “strongest” of all coat colour modifying genes. The depigmentation process may last for years, but once the hair is depigmented, the original colour will never return. Some grey horses become completely white whereas others will keep tiny non-faded spots (also called fleabites). A horse can also carry mutations for other modifying genes which can further affect its coat colour.
The Coat Colour Grey test (P807) tests for the genetic status of the STX17 gene. This gene has two variants (alleles). The dominant allele G results in the Grey coat colour and the recessive allele N does not have an effect on the basic colour. The dominant allele G has a duplication of a part of the DNA. The test does not discriminate between horses carrying 1 or 2 copies of the duplication (N/G or G/G). All horses carrying the duplication will turn grey.
The Coat Colour Grey test encloses the following results, in this scheme the results of the Coat Colour Grey 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 Grey |
Result Chestnut + Agouti |
Coat Colour |
Description |
|---|---|---|---|
|
N/N |
e/e + A/A, A/a or a/a
|
Chestnut, Sorrel |
Horse will not turn grey. 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 |
Horse will not turn grey. 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 |
Horse will not turn grey. 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/G or G/G |
e/e + A/A, A/a or a/a
|
Grey (born chestnut/sorrel) |
Horse is born with basic colour chestnut/sorrel (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring. |
|
N/G or G/G |
E/E or E/e + A/A or A/a |
Grey (born bay/brown) |
Horse is born with basic colour bay/brown (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring. |
|
N/G or G/G |
E/E or E/e + a/a |
Grey (born black) |
Horse is born with basic colour black (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring. |
The Overo coat pattern is a white spotting pattern with white patches on the side with a “frame” of colour surrounding the white. A horse can also carry mutations for other modifying genes which can further affect its coat colour. While Overo coloured horses are desirable, the mutation that causes the overo colour is linked to a fatal condition known as Overo Lethal White Syndrome or OLWS. A foal with OLWS is born all- white and dies of complications from intestinal tract abnormalities. The Coat Colour Overo test (P902) tests for a genetic factor that affects the function of the EDNRB gene. This gene has two variants (alleles). The allele O is semi-dominant. One copy of the O allele results in horses with overo coat pattern. Two copies of the O allele result in a lethal white foal (OLWS). The allele N is recessive and does not have an effect on the basic colour.
The Coat Colour Overo-factor test encloses the following results, in this scheme the results of the Coat Colour Overo-factor 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 Overo-factor |
Result Chestnut + Agouti |
Coat Colour |
Description |
|---|---|---|---|
|
N/N |
e/e + A/A, A/a or a/a
|
Chestnut, Sorrel
|
Not Overo. 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 Overo. 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 Overo. 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/O |
e/e + A/A, A/a or a/a
|
Chestnut/sorrel overo |
Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring. |
|
N/O |
E/E or E/e + A/A or A/a |
Brown/bay overo |
Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring. |
|
N/O |
E/E or E/e + a/a |
Black overo |
Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring. |
|
O/O |
Any result |
Lethal (OLWS) |
Foal with Overo Lethal White Syndrome (OLWS), lethal. |
Per i test sul DNA di un animale possono essere inviati diversi tipi di campione biologico. Nel web shop si indica quale materiale può essere inviato per un test del DNA. Tamponi e sangue sono le matrici maggiormente inviate nel caso di cani e gatti, peli e sangue sono invece le matrici maggiormente inviate per i cavalli.
Il campionamento è la fase più critica dell’analisi del DNA. È molto importante seguire queste istruzioni per massimizzare le possibilità di successo di un test del DNA ed evitare la contaminazione con DNA proveniente da altre fonti. Leggete attentamente le istruzioni di campionamento riportate di seguito prima di campionare l’animale o gli animali.
I campioni possono essere inviati in una busta, preferibilmente protettiva (ad esempio buste imbottite). Per una più rapida elaborazione della vostra richiesta, si prega di inviare i campioni insieme ad una stampa della conferma d’ordine. Nel caso in cui non sia possibile stampare la conferma d’ordine, si prega di aggiungere una nota separata con indicato il numero d’ordine.
Si prega di inviare per posta i campioni, insieme alla conferma d’ordine, al seguente indirizzo: Agrotis SRL
Laboratorio Genetica e Servizi
Via Bergamo 292
26100 Migliaro (Cremona)
Questo pacchetto combinato è progettato per fornirti informazioni vitali sulla salute genetica, sui tratti e sulla diversità del tuo cane e include test del DNA per numerose malattie e/o caratteristiche 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 in questo pacchetto sono disponibili nella sezione ‘Test inclusi’ in questa pagina. Accettiamo campioni di 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 in outsourcing, i cosiddetti “Laboratorio esterno” o “Laboratorio esterno con 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 brevettuali possono variare a causa di ritardi imprevisti.
Alcuni test inclusi sono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come clienti e il laboratorio esterno. In questi casi, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.
