This A-to-T point mutation at position 10369 of the Dnah11 (dynein, axonemal, heavy chain 11) 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate situs inversus totalis and heterodoxy with congenital heart disease including transposition of the great arteries (d-TGA) with ventricular septal defects (VSD). Airway cilia show a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.