This single T701A point mutation in Dync2h1 (dynein cytoplasmic 2 heavy chain 1) cDNA 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 pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC), and a single lung lobe. Micrognathia, hypotelorism, duplex kidney, polydactyly, syndactyly, oligodactyly, tracheoesphageal fistula (TEF), kidney agenesis, eye malformation, and mouth malformation are also seen.