Article
Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype.
Translational vision science & technology - 1 Jun 2023
Occelli Laurence M, Tran Nicholas M, Chen Shiming, Petersen-Jones Simon M
Abstract excerpt
Purpose: Mutations in the CRX transcription factor are associated with dominant retinopathies often with more severe macular changes. The CRX-mutant cat (Rdy-A182d2) is the only animal model with the equivalent of the critical retinal region for high-acuity vision, the macula. Heterozygous cats (CRXRdy/+) have a severe phenotype modeling Leber congenital amaurosis. This study reports the distinct ocular phenotype...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.