This undefined 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, including Taussig Bing type) with ventricular (VSD) and atrioventricular septal defects (AVSD), ventricular non-compaction, right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring. Runted, cleft lip/palate, micrognathia, petechiae, and eye defects including anophthalmia and microphthalamia.