In other species: dog , domestic ferret , domestic cat , taurine cattle , rabbit , American mink

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609227 (trait) , 606526 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0012220: Griscelli syndrome type 3

Mendelian trait/disorder: yes

Disease-related: no

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, diluted" to "Coat colour, dilution, MLPH-related". At the same time, a new phene "Coat colour, dilution, generic" was created.

Species-specific description: Posbergh et al. (2020): "A dilute phenotype has been observed within the Jacob breed, often called lilac. This dilution results in the nonwhite portions of the wool appearing gray, rather than the traditional black."

Inheritance: Posbergh et al. (2020): "based on pedigree analysis of the Jacob Sheep Breeders Association registry, the dilution is inherited and expressed in an autosomal recessive pattern [Anjola and McEwan, 2018]"

Molecular basis: Posbergh et al. (2020) reported "a nonsynonymous mutation within MLPH, which appeared to match the reported autosomal recessive nature of the lilac dilution. This mutation (NC_019458.2:g.3451931C>A) results in a premature stop codon being introduced early in the protein (NP_001139743.1:p.Glu14*), likely losing its function. Validation testing of additional lilac Jacob sheep and known carriers, unrelated to the original case, showed a complete concordance between the mutation and the dilution."

Breed: Jacob (Sheep) (VBO_0001450).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: