D-locus (rare variants, alleles: d2, d3)
D-locus (rare variants, alleles: d2, d3)
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 number | 8636 |
| Abbreviation | d2, d3 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | autosomal recessive |
| Literature | OMIA: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.
