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Article

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

Investigative ophthalmology & visual science - 1 Jun 2023

Shen Jiawei, Wu Qiuyue, You Jinwei, Zhang Xiaoran, Zhu Lei, Xia Xinyi, Xue Chunyan, Tian Xiaoyun

Abstract excerpt

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...

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Identifiers

PMID: 37294706
DOI: 10.1167/iovs.64.7.18
PMCID: PMC10259676

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