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: no

Markers: Pan et al. (2023) analysed "genomic selection signatures to identify a candidate site associated with beak color. [The authors] ... used black-billed (Yiyang I meat duck synthetic line H1, H2, H3&HF) and yellow-billed ducks (Cherry Valley ducks and white feather Putian black duck). Quantitative real-time PCR and genotyping approaches were used to verify the function of the candidate site." MITF was selected as a candidate gene for further analysis and "expression of MITF in the black duck beak tissue was significantly higher (p < 0.01) than that in the yellow beak group ... ." The authors concluded that the intronic MITF variant "ASM874695v1:10:g.17814522T > A could be selected as a marker site for the duck beak color phenotype."

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

Associated gene: