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 double outlet right ventricle (DORV), perimembranous ventricular septal defect (pmVSD), atrioventricular septal defect (AVSD), and thickened atrioventricular and semilunar valves excencephaly, kidney abnormalities including duplex kidney, hydronephrosis, and cystic kidney are also seen.