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 double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), aortic arch anomalies including right aortic arch (RAA) and/or aberrant left subclavian artery, vascular ring, and aortic valve atresia.