TABLE 2.
List of genes and mutant phenotypes related to fetal nuchal edema with cardiac anomalies in mice (loss-of-function mutations).
| Gene | Mutant phenotype | References |
|---|---|---|
| Gata4; Gata6 | VSD; PTA; thin ventricular myocardium | Xin et al., 2006 |
| Congenital heart diseases (human) | ||
| Tbx1 | VSD; PTA | Vitelli et al., 2002; Burger et al., 2016 |
| Congenital heart diseases (human) | ||
| Dock1 | VSD; DORV | Sanematsu et al., 2010 |
| Adm | Small ventricular chamber size; thin and convoluted ventricular myocardium | Caron and Smithies, 2001 |
| Calcrl | Small heart; thin and convoluted ventricular myocardium | Dackor et al., 2006 |
| Nfat5 | Thin ventricular myocardium | Mak et al., 2011 |
| Chd7 | VSD | Bosman et al., 2005 |
| CHARGE syndrome (human) | ||
| Crk | VSD; DORV; thin ventricular myocardium and interventricular septum; dilated ventricular chamber | Park et al., 2006; Imamoto et al., 2020 |
| Fkbp1a | VSD; enlarged heart; thin ventricular myocardium | Shou et al., 1998 |
| Myh10 | VSD; DORV | Ma and Adelstein, 2014 |
| Ngly1 | VSD | Fujihira et al., 2017 |
| Sp3 | AVSD; DORV; thin ventricular myocardium | van Loo et al., 2007 |
| Strn3 | VSD | Dickinson et al., 2016 |
AVSD, atrioventricular septal defect; DORV, double outlet right ventricle; PTA, persistent truncus arteriosus; VSD, ventricular septal defect.