Chd7+/− mice are viable and phenocopy a number of aspects of CHARGE syndrome, including partial penetrance of ventricular septal defects (VSDs) and interrupted aortic arch type B (IAA-B) (Randall et al., 2009; Bosman et al., 2005; Hurd et al., 2007), although the full spectrum and severity of CHARGE cardiovascular malformations are not seen. Here, CHD7 is linked to CHARGE syndrome.