Description: The MC1R gene encodes the Melanocortin-1 receptor, which is responsible for regulating pigment production in melanocytes. The locus E has 3 alleles Em> E> e, which are sorted by dominance. The standard E allele encodes a functional MC1R that allows the synthesis of black pigment, eumelanin. If a dog has at least one dominant allele in this gene (E / -) the resulting coat color is further influenced by the A and K loci. This means that the resulting coat color may not be black. Mutation of the MC1R gene results in non-functional receptors and changes pigment production to pheomelanin. Since the production of eumelanin is deactivated, the effect of other loci is not possible. Dogs homozygous for the e/e allele can only produce pheomelanin, which results in a plain-colored red, yellow, or cream coloring of the dog’s hair, and alleles at loci A, B and K are hidden. (Everts et al., 2000; Newton et al., 2000). Different breeds of dogs with the genotype e/e express different color shades from light cream (golden retriever) to dark red (Irish setter).

 

Inheritance: autosomal recessive

 

Mutation: c.914C>T (R306X) in MC1R gene

 

Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.

 

The analysis is suitable for the following breeds: Afghan, Australian cattle dog, Australian Shepherd, Beagle, Border collie, Brittany Spaniel, Cardigan Welsh Corgi, Chinese Shar-Pei, Chow Chow, Cocker Spaniel, Dachshund, Dalmatian, Doberman Pinscher, English Cocker Spaniel, English Setter, English Springer Spaniel, Field Spaniel, Flatcoated Retriever, Foxhound, French Bull Dog, German Longhaired Pointer, German Shepherd, German Wirehaired Pointer, Labrador Retriever, Pointer, Pomeranian, Poodle, Pudelpointer

 

Notes:

Results are shown using the following symbols: