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. 2022 Aug 30;10:949013. doi: 10.3389/fcell.2022.949013

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.