Article
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
Human genetics - 1 Nov 2017
Hai Tang, Guo Weiwei, Yao Jing, Cao Chunwei, Luo Ailing, Qi Meng, Wang Xianlong, Wang Xiao, Huang Jiaojiao, Zhang Ying, Zhang Hongyong, Wang Dayu, Shang Haitao, Hong Qianlong, Zhang Rui, Jia Qitao, Zheng Qiantao, Qin Guosong, Li Yongshun, Zhang Tao, Jin Weiwu, Chen Zheng-Yi, Wang Hongmei, Zhou Qi, Meng Anming, Wei Hong, Yang Shiming, Zhao Jianguo
Abstract excerpt
Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL) syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) gene. In mouse models with MITF mutations, WS2A is transmitted in a recessive pattern, which limits the study of hearing loss (HL) pathology. In the current study, we performed ENU (ethylnitrosourea) mutagenesis that resulted in substituting a conserved...
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