CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.

ABSTRACT:

Purpose

Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously. The present study aimed to further understand pathogenesis in this model by thoroughly characterizing the Rdy retina.

Methods

Structural and functional changes were found in a comparison between the retinas of CrxRdy/+ kittens and those of wild-type littermates and were determined at various ages by fundus examination, electroretinography (ERG), optical coherence tomography, and histologic analyses. RNA and protein expression changes of Crx and key target genes were analyzed using quantitative reverse-transcribed PCR, Western blot analysis, and

SUBMITTER: Occelli LM 

PROVIDER: S-EPMC4960999 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature