OMIA:002549 : Coat colour and pattern, charcoal, ASIP-related
Categories: Pigmentation phene
Possible human homologues (MIM numbers): 600201 (gene) , 611742 (trait)
Links to MONDO diseases: No links.
Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus. As explained by Schneider et al. (PLoS Genet 10(2): e1004892; 2015), "The most common causes of melanism (black coat) mutations are gain-of-function alterations in MC1R, or loss-of function alterations in ASIP, which encodes Agouti signaling protein, a paracrine signaling molecule that inhibits MC1R signaling".
Species in which this phene is found:
domestic cat (Felis catus)
- Created by Imke Tammen2 on 08 Apr 2022
- Changed by Imke Tammen2 on 08 Apr 2022