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Article

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology.

PloS one - 1 Jan 2011

Lu Ying-Chang, Wu Chen-Chi, Shen Wen-Sheng, Yang Ting-Hua, Yeh Te-Huei, Chen Pei-Jer, Yu I-Shing, Lin Shu-Wha, Wong Jau-Min, Chang Qing, Lin Xi, Hsu Chuan-Jen

Abstract excerpt

Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations may have different pathogenetic mechanisms. In the present study, we established a knock-in mouse model (i.e., Slc26a4(tm1Dontuh/tm1Dontuh) mice) homozygous for the c.919-2A>G mutation, which is a common mutation in East Asians. Mice were then...

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Identifiers

PMID: 21811566
DOI: 10.1371/journal.pone.0022150
PMCID: PMC3141011

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