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

Abstract

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 of other genes in distal 11q contributes to the full spectrum of congenital heart defects that occur in 11q-. Three patients with congenital heart defects have been identified that carry a translocation or paracentric inversion with a breakpoint in distal 11q disrupting one of two functionally related genes, OPCML and Neurotrimin. OPCML and Neurotrimin are two members of the IgLON subfamily of cell adhesion molecules. In this study, we report the generation and cardiac phenotype of single and double heterozygous gene-targeted OPCML and Neurotrimin knockout mice. No cardiac phenotype was detected, consistent with a single gene model as the cause of the congenital heart defects in 11q-.

• Authors: Maoqing Ye, Fabienne Parente, Xiaodong Li, M Benjamin Perryman, Leopoldo Zelante, Anthony Wynshaw-Boris, Ju Chen, Paul Grossfeld
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 4 Pg. 966-74 (Apr 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 24616287 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• Cell Adhesion Molecules
• GPI-Linked Proteins
• Neural Cell Adhesion Molecules
• OPCML protein, human
• neurotrimin

Topics

• Animals
• Base Sequence
• Cell Adhesion Molecules (genetics)
• GPI-Linked Proteins (genetics)
• Gene Deletion
• Heart Defects, Congenital (genetics)
• Humans
• Jacobsen Distal 11q Deletion Syndrome (genetics)
• Mice
• Mice, Knockout
• Molecular Sequence Data
• Neural Cell Adhesion Molecules (genetics)
• Phenotype
• Translocation, Genetic