Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603756 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Molecular basis: Ramirez et al. (2011) reported four "Feline-specific amino acid changes in [conserved regions of] ABCG2 cause a functional defect of the [ABCG2] transport protein in cats", but did not identify any actual likely causal variants.

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

Pathology: "dysfunction of ABCG2 at the blood-retinal barrier likely results in accumulation of photoreactive fluoroquinolones in feline retina. Exposure of the retina to light would then generate reactive oxygen species that would cause the characteristic retinal degeneration and blindness documented in some cats receiving high doses of some fluoroquinolones. " (Ramirez et al., 2011)

Associated gene: