Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype.

ABSTRACT:

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 of homozygous cats (CRXRdy/Rdy).

Methods

Gene expression changes were assessed at both mRNA and protein levels. Changes in globe morphology and retinal structure were analyzed.

Results

CRXRdy/Rdy cats had high levels of mutant CRX mRNA and protein. The expression of photoreceptor target genes was severely impaired although there were variable effects on the ex

SUBMITTER: Occelli LM 

PROVIDER: S-EPMC10292669 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature