In other species: rock pigeon , dog , domestic cat , water buffalo , Japanese quail

Categories: Pigmentation phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: no

Cross-species summary: Iris colour

Species-specific description: Wang et al. (2021): "We identified 4 types of pigment cells: melanophores, xanthophores, iridophores and erythrophores, and characterized their first appearance in wild-type fish. We mutated 25 genes involved in melanogenesis, pteridine metabolism, and the carotenoid absorption and cleavage pathways. Among the 25 mutated genes, 13 genes had a phenotype in both the F0 and F2 generations. None of F1 heterozygotes had phenotype. By comparing the color pattern of our mutants with that of red tilapia (Oreochromis spp), a natural mutant produced during hybridization of tilapia species, we found that the pigmentation of the body and eye is controlled by different genes. Previously studied genes like mitf, kita/kitlga, pmel, tyrb, hps4, gch2, csf1ra, pax7b, and bco2b were proved to be of great significance for color patterning in tilapia."

Inheritance: CRISPR/Cas9 gene editing was used to create mutations (GMO).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing