Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.

ABSTRACT:

Purpose

To describe a novel spontaneous cataract inbred strain isolated from large-scale breeding SD rats, identify the responsible gene mutation, and understand how this mutation affects lens function.

Methods

Exome sequencing of 12 cataract-associated genes was performed in the affected and healthy relatives. Sequences of rat wild-type or mutant gap junction protein alpha 8 gene (Gja8) were transfected into cells. The expression level of protein was assayed by Western blot analysis. Subcellular localization of connexin 50 (Cx50) was analyzed in confocal fluorescent images. Wound-healing, 5-ethynyl-2'-deoxyuridine incorporation, and attachment assay were performed to characterize the cell migration, proliferation and adhesion.

Results

The abnormality was found to be

SUBMITTER: Shen J 

PROVIDER: S-EPMC10259676 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature