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 defects that involve heterotaxy with right pulmonary isomerism and congenital heart disease including transposition of the great arteries (TGA), double outlet right ventricle (DORV), and atrio-ventricular septal defects (AVSD).