OMIA:002629-749191 : Skin colour, MITF-related in Cyprinus carpio 'wuyuanensis' (Wuyuan red carp)

In other species: Koi

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:

Symbol Description Species Chr Location OMIA gene details page Other Links
mitfa Cyprinus carpio 'wuyuanensis' - no genomic information (-..-) mitfa Ensembl

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002629-749191: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Li, B.J., Chen, L., Yan, M.Z., Zou, X.Q., Bai, Y.L., Xue, Y.G., Jiang, Z., Chen, B.H., Li, C.Y., He, Q., Feng, J.X., Zhou, T., Xu, P. :
Intercross population study reveals that co-mutation of mitfa genes in two subgenomes induces red skin color in common carp (Cyprinus carpio wuyuanensis). Zool Res 44:276-286, 2023. Pubmed reference: 36785895. DOI: 10.24272/j.issn.2095-8137.2022.388.

Edit History

  • Created by Imke Tammen2 on 17 Feb 2023
  • Changed by Imke Tammen2 on 17 Feb 2023