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Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Human mutation - 1 Dec 2010

Yang Sung-Sen, Lo Yi-Fen, Yu I-Shing, Lin Shu-Wha, Chang Tai-Hsiang, Hsu Yu-Juei, Chao Tai-Kuang, Sytwu Huey-Kang, Uchida Shinichi, Sasaki Sei, Lin Shih-Hua

Abstract excerpt

Gitelman syndrome (GS) is characterized by salt-losing hypotension, hypomagnesemia, hypokalemic metabolic alkalosis, and hypocalciuria. To better model human GS caused by a specific mutation in the thiazide-sensitive Na(+) -Cl(-) cotransporter (NCC) gene SLC12A3, we generated a nonsense Ncc Ser707X knockin mouse corresponding to human p.Ser710X (c.2135C>A), a recurrent mutation with severe phenotypes in Chinese...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20848653
DOI: 10.1002/humu.21364

Genes

DCT
TRPV5

Variants

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