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Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.


ABSTRACT: 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 developmental and morphological abnormality was observed in the knock-in mouse cochlea, while confocal immunostaining and electron microscopic scanning revealed minor loss of the outer hair cells. Gene expression microarray analysis identified 105 up-regulated and 43 down-regulated genes in P5 knock-in mouse cochleae (P?

SUBMITTER: Chen Y 

PROVIDER: S-EPMC5020688 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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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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