Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.

ABSTRACT:

Purpose

As part of a large scale systematic screen to determine the effects of gene knockout mutations in mice, a retinal phenotype was found in mice lacking the Slc9a8 gene, encoding the sodium/hydrogen ion exchange protein NHE8. We aimed to characterize the mutant phenotype and the role of sodium/hydrogen ion exchange in retinal function.

Methods

Detailed histology characterized the pathological consequences of Slc9a8 mutation, and retinal function was assessed by electroretinography (ERG). A conditional allele was used to identify the cells in which NHE8 function is critical for retinal function, and mutant cells analyzed for the effect of the mutation on endosomes.

Results

Histology of mutant retinas reveals a separation of photoreceptors from the RPE and infiltra

SUBMITTER: Jadeja S 

PROVIDER: S-EPMC4538965 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature