This mutation in the Dnah11 (dynein, axonemal, heavy chain 11) gene 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate complex congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with subaortic ventricular septal defect, atrioventricular septal defect (AVSD), and hypoplastic/abnormal spleen. Immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis are also seen.