Article
USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.
Translational vision science & technology - 1 Feb 2023
Nguyen Van Phuc, Song Jun, Prieskorn Diane, Zou Junhuang, Li Yanxiu, Dolan David, Xu Jie, Zhang Jifeng, Jayasundera K Thiran, Yang Jun, Raphael Yehoash, Khan Naheed, Iannuzzi Michael, Bisgaier Charles, Chen Y Eugene, Paulus Yannis M, Yang Dongshan
Abstract excerpt
Purpose: Mutations in USH2A gene are responsible for the greatest proportion of the Usher Syndrome (USH) population, among which more than 30% are frameshift mutations on exon 13. A clinically relevant animal model has been absent for USH2A-related vision loss. Here we sought to establish a rabbit model carrying USH2A frameshift mutation on exon 12 (human exon 13 equivalent). Methods: CRISPR/Cas9 reagents...
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