Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology.
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/...
Main Authors: | Ying-Chang Lu, Chen-Chi Wu, Wen-Sheng Shen, Ting-Hua Yang, Te-Huei Yeh, Pei-Jer Chen, I-Shing Yu, Shu-Wha Lin, Jau-Min Wong, Qing Chang, Xi Lin, Chuan-Jen Hsu |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2011-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3141011?pdf=render |
Similar Items
-
Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation
by: Yen-Fu Cheng, et al.
Published: (2019-10-01) -
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling
by: Li Qi, et al.
Published: (2012-11-01) -
Physiological and Pathological Functions of SLC26A6
by: Juan Wang, et al.
Published: (2021-01-01) -
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.
by: Ying-Chang Lu, et al.
Published: (2014-01-01) -
Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice
by: Kaifeng Yin, et al.
Published: (2017-05-01)