These NCC mutants have outflow tract (OFT) and other defects.12 Our own work described cardiogenic mesodermal-specific (Mesp1-Cre conditional) null mutants (conditional knock-out, cKO) of Chd7 which similarly had intracardiac [atrioventricular septal defects (AVSDs)] and outflow defects, together with interruption of the aortic arch, which recapitulate abnormalities seen in the human syndrome.13 Thus, CHD7 has multiple, important tissue specific roles that likely act through both cell autonomous and non-autonomous actions. This evidence concerns the gene CHD7 and familial atrioventricular septal defect.