D-locus (rare variants d2, d3)

LABOKLIN Service ID: 8636

The D locus is the primary locus associated with diluted pigment. A recessive mutation is the cause of colour dilution phenotypes in the dog. Two alleles (variants) were described: the dominant full colour (D) and the recessive diluted colour (d). Two copies of dilute are needed to lighten black pigment to grey (often called blue), brown pigment to silver or isabella and red pigment to cream (also called buff). A diagnostic DNA test identifies the specific variants of the MLPH gene.
At the moment, three genetic variations (d1, d2 and d3) are known which independently can result
the diluted coat colour. d1 could be found in all breeds whereas d2 only has been identified
at the breeds Chow Chow, Thai Ridgeback Dog and Sloughi and d3 at the breeds Chihuahua, Italian Greyhound and Pumi . In these breeds, the tests for both relevant variants are recommended.

Method	sequencing
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab