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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 5 |
| Mutation | c.250G>A |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | E-locus |
General information
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.
Clinical features
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.
Additional information
Coat colour is an intricate trait that involves a combination of multiple different genes. Testing for a range of different loci will give the most complete prediction of a dog's coat colour genetics.
References
Pubmed ID: 38282569
Year published: 2024
Omia ID: 1199
Omia variant ID: