Patterns & Phenotypes
Characterization of the cardiac phenotype in neonatal Ts65Dn mice
Article first published online: 26 DEC 2007
Copyright © 2007 Wiley-Liss, Inc.
Volume 237, Issue 2, pages 426–435, February 2008
How to Cite
Williams, A. D., Mjaatvedt, C. H. and Moore, C. S. (2008), Characterization of the cardiac phenotype in neonatal Ts65Dn mice. Dev. Dyn., 237: 426–435. doi: 10.1002/dvdy.21416
- Issue published online: 21 JAN 2008
- Article first published online: 26 DEC 2007
- Manuscript Accepted: 25 OCT 2007
- National Heart, Lung, and Blood Institute. Grant Numbers: R15 HL081099, R01 HL66231
- transgenic approaches;
- gene expression;
- morphogenetic processes
The Ts65Dn mouse is the most-studied of murine models for Down syndrome. Homology between the triplicated murine genes and those on human chromosome 21 correlates with shared anomalies of Ts65Dn mice and Down syndrome patients, including congenital heart defects. Lethality is associated with inheritance of the T65Dn chromosome, and anomalies such as right aortic arch with Kommerell's diverticulum and interrupted aortic arch were found in trisomic neonates. The incidence of gross vascular abnormalities was 17% in the trisomic population. Histological analyses revealed interventricular septal defects and broad foramen ovale, while immunohistochemistry showed abnormal muscle composition in the cardiac valves of trisomic neonates. These findings confirm that the gene imbalance present in Ts65Dn disrupts crucial pathways during cardiac development. The candidate genes for congenital heart defects that are among the 104 triplicated genes in Ts65Dn mice are, therefore, implicated in the dysregulation of normal cardiogenic pathways in this model. Developmental Dynamics 237:426–435, 2008. © 2007 Wiley-Liss, Inc.