In other species: Koi

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 156845 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: red skin colour

Molecular basis: Li et al. (2023): "While mitf genes generally have two paralogs (mitfa and mitfb) in diploid teleosts due to third-round genome duplication (3R WGD), we found four copies (mitfa (A06), mitfa (B06), mitfb (A23), mitfb (B23)) in the common carp. According to our research, only simultaneous loss-of-function of both copies of mitfa resulted in the absence of melanophores. In other words, the absence of melanocytes in the skin of HB depended on a double recessive homozygous allelic genotype ... . After scanning gene regions by IGV, several fixed mutations were observed in the HB [Hebao red carp] strain. In mitfa (A06), we identified a haplotype with a 240 bp deletion (A06: 23 318 912–23 318 913) and a 1 773 bp insertion (A06: 23 315 866–23 317 639), which was homozygous in the HB strain but heterozygous or without mutation in the YR [Yellow River carp, C. carpio haematopterus] strain ... . Furthermore, a nonsynonymous single nucleotide mutation (B06: 22 467 522 (G→C)) was found in the 8th exon of mitfa (B06), which caused an Ala244→Pro244 substitution."

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

Associated gene: