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H129

Sable is a hereditary coat colour pattern associated with a mutation in the melanocortin 1 receptor (MC1R; alpha melanocyte stimulating hormone receptor) gene, which influences the type of pigment produced in the hair.

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Specifiche

Razza

Gene

Cromosoma

5

Mutation

c.250G>A

Tipo di Ereditarietà

Autosomico Recessivo

Organo

Campione

Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto

Also known as

E-locus

Informazioni generali

Sable is a hereditary coat colour pattern associated with a mutation in the melanocortin 1 receptor (MC1R; alpha melanocyte stimulating hormone receptor) gene, which influences the type of pigment produced in the hair. This variant /affect the normal switch between eumelanin (black/brown pigment) and phaeomelanin (red/yellow pigment), resulting in hairs that are lighter at the base with darker tips. This creates a reddish or golden coat with darker shading, often most noticeable on the ears, back, and tail. In English Cocker Spaniels, the inheritance pattern is most likely autosomal recessive.

Caratteristiche cliniche

Affected dogs show a characteristic pattern of darker shading along the topline and over the shoulders, with shading that may extend down the sides of the body and the outer surfaces of the limbs. Individual hairs are banded, being lighter at the base and darker towards the tip, which creates a soft, blended appearance rather than a sharply defined pattern.

The head often shows clearer contrast, with darker shading on the crown and ears, while the muzzle and facial area are lighter. This can create the impression of a gradual transition on the face, which is typical of the sable pattern in English Cocker Spaniels.

Informazioni aggiuntive

Il colore del mantello è un tratto intricato che coinvolge una combinazione di più geni diversi. Il test per una serie di loci diversi fornirà una previsione più completa della genetica del colore del mantello di un cane.

Riferimenti

Pubmed ID: 38282569

Year published: 2024

Omia ID: 1199

Omia variant ID: 1681

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