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Coat Colour Em-locus

Breeds
ALL

General

Disease Name
Coat Colour Em-locus
Disease Name 2
Melanistic Mask
OMIA
1590
Gene Name
H818
Mutation
g.63694460A>G
Mutation 2
c.790A>G
Mutation 3
p.M264V
Test Type
Other Genetic Traits
Details
A melanistic mask (also referred to as a mask or masking) is a dog coat pattern that gives the appearance of a mask on the dog's face. Black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic (black) muzzle which may extend up onto the ears. The hairs on the muzzle, and sometimes entire face or ears, are colored by eumelanin instead of pheomelanin pigment. Melanistic mask is inherited in several breeds as an autosomal dominant trait, andmay be a fixed trait in a few breeds of dogs.
Details 2
Black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic muzzle which may extend up onto the ears. Melanistic mask is inherited in several breeds as an autosomal dominant trait, and appears to be a fixed trait in a few breeds of dogs... All dogs with a melanistic mask had at least one copy of a valine substitution for methionine at amino acid 264 (M264V) and none were homozygous for the premature stop codon (R306ter). These results suggest that black mask, but not brindle, is caused by a specific MC1R allele. (Schmutz et al, 2003)
Published
Schmutz, SM., Berryere, TG., Ellinwood, NM., Kerns, JA., Barsh, GS. : MC1R studies in dogs with melanistic mask or brindle patterns. J Hered 94:69-73, 2003. Pubmed reference: 12692165.
Published 2
Conant, E.K., Juras, R., Cothran, E.G. : Incidence of the mask phenotype M264V mutation in Labrador Retrievers. Res Vet Sci 91:e98-9, 2011. Pubmed reference: 21353269. DOI: 10.1016/j.rvsc.2011.02.002
Body/System/Process
Coat Colour/Pattern/Type
Inheritance
AD
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