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 malalignment of the great arteries with transposition of the great arteries (TGA), double outlet right ventricle (DORV), right aortic arch (RAA), and hypoplastic left ventricle/hypoplastic left heart syndrome. A short snout, cleft palate, malaligned sternovertebrae, kidney agenesis, hypoplastic/dysplastic kidney, cystic kidney, and hydronephrosis are also seen.