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 congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA), aortic arch anomalies, and duplicated inferior vena cava (IVC). Thymus hypoplasia, right pulmonary isomerism, and midline liver are also seen.