Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ.

ABSTRACT:

Purpose

Retinal detachments (RDs), a separation of the light-sensitive tissue of the retina from its supporting layers in the posterior eye, isolate retinal cells from their normal supply of nourishment and can lead to their deterioration and death. We identified a new, spontaneous murine model of exudative retinal detachment, nm3342 (new mutant 3342, also referred to as rpea1: retinal pigment epithelium atrophy 1), which we characterize herein.

Methods

The chromosomal position for the recessive nm3342 mutation was determined by DNA pooling, and the causative mutation was discovered by comparison of whole exome sequences of mutant and wild-type controls. The effects of the mutation were examined in longitudinal studies by clinical evaluation, electroretinography (ERG), light

SUBMITTER: Ji X 

PROVIDER: S-EPMC4794085 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature