Crx-L253X Mutation Produces Dominant Photoreceptor Defects in TVRM65 Mice.

ABSTRACT:

Purpose

The cone-rod homeobox (CRX) transcription factor is essential for photoreceptor gene expression, differentiation, and survival. Human CRX mutations can cause dominant retinopathies of varying onset and phenotype severity. In animal models, dominant frameshift Crx mutations introduce a premature termination codon (PTC), producing inactive truncated proteins that interfere with normal CRX function. Previously, a mutant mouse, TVRM65, was reported to carry a recessive late PTC mutation, Crx-L253X. More detailed phenotype analysis of the pathogenicity of Crx-L253X sheds new light on the variability of CRX-linked diseases.

Methods

Homozygous (L253X/X); heterozygous (L253X/+); Crx-/- and control C57BL/6J (WT) mice were analyzed at various ages for changes in retinal functi

SUBMITTER: Ruzycki PA 

PROVIDER: S-EPMC5597032 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature