Categories: Endocrine / exocrine gland phene (incl mammary gland)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613815 (gene) , 201910 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Cross-species summary: 21-hydroxylase deficiency in humans causes congenital adrenal hyperplasia and nonclassical hyperandrogenism.

Species summary: Carranza et al. (2024) used CRISPR/Cas9 technology to generate a null allele for the medaka cyp21a2 gene: "We have observed a delay in hatching and a low survival rate in homozygous mutants. ... [The] mutant medaka recapitulates several aspects of cyp21a2-deficiency observed in humans, making it a valuable model for studying steroidogenesis in [congenital adrenal hyperplasia] CAH." This phene includes references to studies involving gene edited or genetically modified organisms (GMO)

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: