. Author manuscript; available in PMC: 2013 Jul 1.

Published in final edited form as: Differentiation. 2012 Apr 17;84(1):79–88. doi: 10.1016/j.diff.2012.03.002

Table 1.

Cardiovascular defects in select Twist family mouse models

	Cardiovascular Related Expression	Mouse Model	Cardiovascular Related Phenotype	Source
*Twist1*	NCC, Mesenchyme, Endocardium	Twist1^-/-	Pharyngeal arch defects, aberrant NCC migration	(Chen and Behringer 1995; Vincentz, Barnes et al. 2008)
*Twist1*	NCC, Mesenchyme, Endocardium	Tie2-Cre inducible Twist1 overexpression (Endothelium)	Abnormal valve remodeling, increased valve thickness	(Chakraborty, Wirrig et al. 2010)
*Hand1*	NCC, Myocardium, Epicardial Precursors	Hand1^-/-	Abnormal looping, but early embryonic lethality is due to extra-embryonic defects	(Firulli, McFadden et al. 1998; Riley, Anson-Cartwright et al. 1998; Morikawa and Cserjesi 2004)
*Hand1*	NCC, Myocardium, Epicardial Precursors	Wnt1-Cre; Hand1 CKO (NCC)	No defects (genetic interactions with Hand2)	(Barbosa, Funato et al. 2007)
*Hand2*	Myocardium, NCC, Epicardium, Endocardium	Hand2^-/-	Single ventricle, failure of aortic arch artery formation, dilation of aortic and pericardial sac	(Srivastava, Thomas et al. 1997)
		Wnt1-Cre; Hand2 CKO (NCC)	Aortic arch artery defects, DORV, VSD	(Morikawa and Cserjesi 2008; Holler, Hendershot et al. 2010)
		Mef2C-Cre; Hand2 CKO (SHF progenitors, Myocardium, Endocardium)	Tricuspid Atresia, PTA, RV hypoplasia	(Tsuchihashi, Maeda et al. 2011)
		Hand1^Cre; Hand2 CKO (NCC, PEO, Epicardium, lateral mesoderm)	OFT septation defects including PTA and DORV, abnormal compaction, and defective epicardialization	(Barnes, Firulli et al. 2011)
		WT1^ERT2Cre; Hand2 CKO (Lateral mesoderm, PEO, Epicardium)	Phenocopies Hand1^Cre; Hand2 CKO	(Barnes, Firulli et al. 2011)

NCC, neural crest cells; DORV, double outlet right ventricle; VSD, ventricular septal defect; PTA, persistent truncus arteriosus; OFT, outflow tract; PEO, proepicardium; CKO, conditional knockout