This mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve overriding aorta/double outlet right ventricle (DORV), thick aorta/pulmonary artery (Ao/PA) valves, dilated pulmonary artery (PA), hypoplastic aorta, biventricular hypertrophy, and coronary fistula. Craniofacial defects with micrognathia, hypoplastic thymus, unfused sternum, and hindlimb anomalies are also seen.