In other species: white-tufted-ear marmoset , Tufted capuchin , crab-eating macaque

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 303800 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Dichromatic colour vision; colorblindness; colour blind; color vision deficiency; CVD

Molecular basis: Lu et al. (2023) "constructed the sws1 knockout medaka using CRISPR/Cas9 technology. ... results suggest that sws1 deficiency in medaka larvae may impair visual function and cause retinal cell apoptosis ... ." The sws1 gene is also called OPN1SW, and in humans variants in the gene cause blue colour blindness. This phene includes references to studies involving gene edited or genetically modified organisms (GMO).

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