Article
Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.
Mutation research - 1 Aug 2016
Zhang Jian, Liu Ziyi, Chang Aoshuang, Fang Jie, Men Yuqin, Tian Yong, Ouyang Xiaomei, Yan Denise, Zhang Aizhen, Sun Xiaoyang, Tang Jie, Liu Xuezhong, Zuo Jian, Gao Jiangang
Abstract excerpt
Prestin is critical to OHC somatic motility and hearing sensitivity in mammals. Several mutations of the human SLC26A5 gene have been associated with deafness. However, whether the IVS2-2A>G mutation in the human SLC26A5 gene causes deafness remains controversial. In this study, we created a mouse model in which the IVS2-2A>G mutation was introduced into the mouse Slc26a5 gene by gene targeting. The homozygous...
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