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Article

Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2019

Lin Chien-Ming, Cheng Chih-Jen, Yang Sung-Sen, Tseng Min-Hua, Yen Ming-Tso, Sung Chih-Chien, Lin Shih-Hua

Abstract excerpt

The Kelch-like 3 ( KLHL3) mutations contributed to the most common causative genes in patients with pseudohypoaldosteronism type II (PHAII); however, the molecular mechanisms of PHAII-causing mutations in BTB domain of KLHL3 in vivo have not been investigated. We generated and analyzed Klhl3 knock-in (KI) mice carrying a missense M131V mutation in the BTB domain (corresponding to human KLHL3 M78V mutation)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30148674
DOI: 10.1096/fj.201801023R

Genes

KLHL3
WNK1
WNK4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.PMID 30148674Read ↗

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