Researchers developed these knock-in mice by using homologous recombination to clone the R120G mutation into exon 3 of the αB-crystallin gene (cryab). αB-crystallin (cryAB) helps to maintain protein stability in the eye lens, which is necessary for transparency. The R120G mutation causes aggregation that results in early-onset cataracts, and the cryAB R120G mutant knock-in mice consequently can be used as a model for studying therapies for treating and reversing cataracts.
A Knock-In Mouse Model for the R120G Mutation of αB-Crystallin Recapitulates Human Hereditary Myopathy and Cataracts
Mechanism of Action of VP1-001 in cryAB(R120G)-Associated and Age-Related Cataracts