Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
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ABSTRACT:
SUBMITTER: Chen Y
PROVIDER: S-EPMC5020688 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Publications
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
Chen Ying Y Hu Lingxiang L Wang Xueling X Sun Changling C Lin Xin X Li Lei L Mei Ling L Huang Zhiwu Z Yang Tao T Wu Hao H
Scientific reports 20160913
The homozygous p.V37I variant in GJB2 is prevalent in East and Southeast Asians and may lead to mild-to-moderate hearing loss with reduced penetrance. To investigate the pathogenic mechanism underlying this variant, we generated a knock-in mouse model of homozygous p.V37I by an embryonic stem cell gene targeting method. Auditory brainstem response test showed that the knock-in mice developed progressive, mild-to-moderate hearing loss over the first 4-9 months. Overall no significant developmenta ...[more]
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