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 overriding aorta/double outlet right ventricle (DORV), muscular ventricular septal defect (VSD), ventricular non-compaction, and aortic arch anomalies with incomplete vascular ring. Growth retardation, abnormal palate, and hypoplastic thymus are also seen.