Coat Colour Em-locus
Breed: ALL
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Coat Colour Em-locus
OMIA
1590
Gene Name
MC1R
Mutation
g.63694460A>G
Mutation 2
c.790A>G
Mutation 3
p.M264V
Mutation 4
g.1875_1890dupCCCCAGGTCAGAGTTT
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
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Labrador Retriever
HSP Test-Specific Data
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Newton JM, AL Wilkie, L He et al. Melanocortin 1 receptor variation in the domestic dog. Mammalian Genome 11:24-30 (2000)
FCI Number
-20
GTP Breed
ALL
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
FCI Number
-20
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
H818
Mutation
g.63694460A>G; c.790A>G; p.M264V
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
FCI Number
-20
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Em Locus (Melanistic mask)
Gene Name
MC1R
Mutation
g.63694460A>G; c.790A>G; p.M264V; g.1875_1890dupCCCCAGGTCAGAGTTT
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
-20
GTP Breed
ALL