This C3184T Dnah11 (dynein, axonemal, heavy chain 11) point 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects, including situs inversus totalis, heterotaxy, left pulmonary isomerism and left liver isomerism. Cystic kidney disease, hydronephrosis, and hyperkinetic/dyskinetic airway cilia are also seen.