Description: The last d3 allele was found only recently. It is associated with the c.667_668insC mutation, which leads to a frameshift and premature creation of a STOP codon which leads to a truncated protein. The mutation is found in the same way as d2 in exon 7. The d3 allele occurs in the breeds Hungarian Pumi, Hungarian Mudi, Chihuahua, Pekingese, Italian Greyhound, Shih Tzu, Tibetan Mastiff, Yorkshire Terrier, and Sheltie.
Currently, 3 variants (alleles d1, d2, and d3) caused by three different mutations have been identified in locus D. The d1,d2, and d3 variants are analyzed separately (three different analyzes).
Allele d1: c.-22G>A in MLPH gene
Allele d2: c.705G>C in MLPH gene
Allele d3: c.667_668insC in MLPH gene
Inheritance: autosomal recessive
Mutation (d3): c.667_668insC in MLPH gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Chihuahua, Hungarian mudis, Hungarian pumis, Italian greyhound, Pekingese, Shetland sheepdog, Shih-Tzu, Tibetan mastiff, Yorkshire terrier – in these breeds, a combination of the alleles d1/d3 may occur – these dogs may also have diluted coat color
Notes: So far, alleles d1, d2, and d3 have been identified. Additional gene variants responsible for color dilution are expected to occur in other breeds.
