This C-to-T point mutation at position 2755 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 heterotaxy with congenital heart disease. Duplex kidneys with kidney cysts are also seen. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat.