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

Published in final edited form as: Dev Biol. 2012 Jun 27;369(1):54–64. doi: 10.1016/j.ydbio.2012.06.016

Table 1.

Genes Associated with Defects in Tracheoesophgeal Development in Mouse and Human.

Mouse gene	Foregut malformations (mouse)	EA/TEF (human)	Reference
Shh^−/−	EA/TEF, rudimentary lung buds	EA/TEF in some SHH^+/− patients	(Litingtung et al., 1998; Spilde et al., 2003)
Gli2^−/−;Gli3^+/−	EA/TEF, abnormal lungs	EA/TEF in some patients with GLI3 mutation	(Johnston et al., 2005; Motoyama et al., 1998)
Gli2^−/−;Gli3^−/−	No esophagus, trachea and lungs	EA/TEF in some patients with GLI3 mutation	(Johnston et al., 2005; Motoyama et al., 1998)
Foxf1^+/−	Narrow esophagus or TEF, lung hypoplasia	EA/TEF with the deletion of locus containing FOXF1 gene	(Mahlapuu et al., 2001; Stankiewicz et al., 2009)
RARα^−/−;RARβ2^−/−	EA/TEF, lung hypoplasia or agenesis	Unknown	(Luo et al., 1996) (Kastner et al., 1997)
RARα1^−/−;RARβ^−/−	EA/TEF, lung hypoplasia or agenesis	Unknown	(Luo et al., 1996)
Nkx2.1^−/−	TEF, rudimentary lung buds	Unknown	(Minoo et al., 1999)
Sox2^GFP/COND hypomorph	EA/TEF, abnormal lung epithelial differentiation	EA/TEF in SOX2^+/− patients	(Que et al., 2007; Williamson et al., 2006)
Noggin^−/−	EA/TEF	EA/TEF with the deletion of locus containing NOG gene	(Li et al., 2007; Marsh et al., 2000; Que et al., 2006)
HoxC4^−/−	Blocked esophageal lumen with abnormal musculature	Unknown	(Boulet and Capecchi, 1996)
PCSK5^Vcc/Vcc^*	TEF, lung hypoplasia	Unknown	(Szumska et al., 2008)

Mutations of MYCN, CHD7, and MID1.2 have been implicated in the cause of syndromic EA/TEF in humans. However, mouse genetic deletion models reveal no EA/TEF.

Vcc is an Ethylnitrosourea (ENU)-induced mouse mutation which predicts a C470R amino acid change. (Adapted from (de Jong et al., 2010; Que et al., 2006))

Abbreviation: EA, esophageal atresia; TEF, tracheoesophageal fistula.