Article
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.
Cellular and molecular life sciences : CMLS - 13 May 2023
Li Qing, Cui Chong, Liao Rongyu, Yin Xidi, Wang Daqi, Cheng Yanbo, Huang Bowei, Wang Liqin, Yan Meng, Zhou Jinan, Zhao Jingjing, Tang Wei, Wang Yingyi, Wang Xiaohan, Lv Jun, Li Jinsong, Li Huawei, Shu Yilai
Abstract excerpt
Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations. Owing to the homozygous lethality of Gjb2 mutations in mice, there are currently no perfect mouse models carrying Gjb2 mutations derived from patients for mimicking human hereditary deafness and for unveiling the pathogenesis of the disease....
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