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Coat Colour Em-locus

Breed: ALL

Generic Phene Data

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

Breed Specific Data

CAG GmbH Center for Animal Genetics

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

Genoscoper Laboratories Oy

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

Laboklin Gmbh & Co. KG

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

Veterinary Genetics Laboratory

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test
GTP- or Breed-Specific Publications
Schmutz SM, TG Berryere, NM Ellinwood, JA Kerns and GS Barsh. MC1R studies in dogs with melanistic mask or brindle patterns. Journal of Heredity 94:69-73 (2003)

VHL Genetics

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

Wisdom Health (formerly Mars Veterinary)

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test

DNA My Dog

Link to GTP
Breed
ALL
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Nature of test
mutation test
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