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Article

Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation.

Circulation. Arrhythmia and electrophysiology - 1 Oct 2015

Chowdhury Rajib, Ashraf Hassan, Melanson Michelle, Tanada Yohei, Nguyen Minh, Silberbach Michael, Wakimoto Hiroko, Benson D Woodrow, Anderson Robert H, Kasahara Hideko

Abstract excerpt

BACKGROUND: Heterozygous human NKX2-5 homeodomain (DNA-binding domain) missense mutations are highly penetrant for varied congenital heart defects, including progressive atrioventricular (AV) block requiring pacemaker implantation. We recently replicated this genetic defect in a murine knockin model, in which we demonstrated highly penetrant, pleiotropic cardiac anomalies. In this study, we examined postnatal AV...

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Source

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Identifiers

PMID: 26226998
DOI: 10.1161/CIRCEP.115.002720
PMCID: PMC4618020

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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