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), ventricular septal defects (subaortic VSD or AVSD), ventricular non-compaction, dysplastic cushion-like semilunar and atrioventricular valves. Vascular congestion, hypoplastic thymus, and cystic kidneys are also seen.