Cat Coat Color - D locus (Dilute)

Acronym:	D locus
Gene:	MLPH
Mutation:	c.83delT
Inheritance:	Autosomal recessive
Sample type:	CHS (Cheek Swab), WBE (Whole Blood EDTA)

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Genetics and characteristics

The dilute phenotype in the domestic cat appears as a dilution of expected coat color and affects both eumelanin and phaeomelanin. As two examples, the dilution of black results in a gray phenotype (termed “blue” by cat breeders), while dilute combined with orange appears as a cream color, chocolate results in lilac, cinnamon results in fawn, and orange in creme. MLPH protein is one of the critical components essential for the even distribution and transport of pigment granules in the skin. When the MLPH gene on the D locus is mutated, pigment granules are clumped and distributed unevenly along the hair shaft, which results in coat color dilution. In cats, dilute is inherited in an autosomal recessive pattern, meaning that in order for a cat to express dilute coat color, has to have two d alleles ( genotype dd). A cat can be heterozygous on the D locus ( genotype Dd), which means the cat will be the d gene carrier but without its expression.

 

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Results Reported As

 

 

 

 

 

 

 

 

 

 

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References:

Ishida, Y., David, V.A., Eizirik, E., Schäffer, A.A., Neelam, B.A., Roelke, M.E., Hannah, S.S., O’brien, S.J., and Menotti-Raymond, M. (2006). A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Genomics 88, 698–705.