Description: Mutations in the TYRP1 – (Tyrosinase-related protein 1) gene cause dilution of black eumelanin to brown eumelanin, but do not affect the intensity of the red and yellow pheomelanin pigments.
In the Australian Shepherd breed, a new mutation bE c.555T> G associated with brown staining has been described. This mutation has so far been described only in this breed but is also possible in other breeds that have a brown color. Discovered and published by our laboratory staff.
Inheritance: autosomal recessive
Mutation: bE c.555T>G in TYRP1 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: Australian Shepherd, Mini Australian/ American shepherd
Notes: This is a separate analysis designated as Locus BE. It is not part of the Locus B analysis where three mutations are observed: bS (Q331ter), bD (345del), bC (S41C) in the TYRP1 gene.