Amelanism - Aphaeomelanism

Aphaeomelanism

Aphaeomelanism is the abnormal absence of phaeomelanin from the integumentary system and/or eyes. Phaeomelanin is produced by melanocytes in the absence of melanocortin 1 receptor. This absence is mediated by agouti signalling protein, which antagonizes melanocortin 1 receptor. Loss of function of agouti signalling protein can permit unmediated phaeomelanin production, producing a uniformly black-to-brown coat color. This condition can be observed in dogs, cats, and horses. The appearance of mammals with recessive agouti mutations is typically dense black. As with aeumelanism, the difference between lack of phaeomelanin and abundance of eumelanin is one of words. Some agouti alleles in mice are associated with health defects, but this is not the case in dogs, cats, or horses.

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