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Article

Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation.

International heart journal - 12 Dec 2017

Cao Qing, Shen Yang, Liu Xin, Yu Xin, Yuan Ping, Wan Rong, Liu Xiuxia, Peng Xiaogang, He Wenfeng, Pu Jielin, Hong Kui

Abstract excerpt

DTNA encoding dystrobrevin-α (α-DB) is a putative causal gene associated with left ventricular noncompaction cardiomyopathy (LVNC). The aim of the study was to investigate the causal role of DTNA in LVNC using a transgenic mouse model.A missense mutation (c.146A > G, p.N49S) of DTNA was identified in a patient with LVNC by Sanger sequencing. Six independent lines of transgenic mice expressing the mutant DTNA...

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Share to Dystrophin-Associated Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Isolated Noncompaction of the Ventricular Myocardium

Share to Mice, Inbred C57BL

Share to Mice, Transgenic

Share to Mutation, Missense

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Source

Identifiers

PMID: 29118297
DOI: 10.1536/ihj.16-019

Genes

DTNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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