D-locus d1 (dilution)

General description

The D-locus influences distribution of all pigments causing coat colour dilution. Common names for colours originating from the D-locus are: blue, grey, cream, lilac, silver, charcoal, champagne, etc. In addition to the d1 variant, the variants d2 or d3 could also be relevant in some breeds.

Order details
Test number8136
Abbreviationd1
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
InheritanceAllelic series: D dominant over d1, d2 and d3
GeneMLPH
MutationG-A
LiteratureOMIA:000031-9615
Detailed description

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.