Coat Colour Em-locus
            Breed: Welsh Corgi Cardigan
        
        
        
        
    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
Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Synonym
        
    
    
            LocEM
            
        
        
        
            Gene Name
        
    
    
            MC1R
            
        
        
        
            Mutation
        
    
    
            c.790A>G
            
        
        
        
            Mutation Comment
        
    
    
            g.63694460C>T
            
        
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