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Article

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

American journal of medical genetics. Part A - 1 Apr 2014

Ye Maoqing, Parente Fabienne, Li Xiaodong, Perryman M Benjamin, Zelante Leopoldo, Wynshaw-Boris Anthony, Chen Ju, Grossfeld Paul

Abstract excerpt

Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal11q. Many of the most common and severe congenital heart defects that occur in the general population occur in 11q-. Previous studies have demonstrated that gene-targeted deletion in mice of ETS-1, a cardiac transcription factor in distal 11q, causes ventricular septal defects with 100% penetrance. It is unclear whether deletion...

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Source

Identifiers

PMID: 24616287
DOI: 10.1002/ajmg.a.36441

Genes

OPCML

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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