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 a double outlet right ventricle (DORV), overriding aorta, ventricular septal defect (VSD), and situs inversus totalis. Micrognathia, microcephaly/anencephaly, holoprosencephaly, polycystic kidney disease, ophthalmic malformation, and mouth malformation are also seen.