This C-to-A single point mutation at position 2755 of the Dnah5 (dynein, axonemal, heavy chain 5) 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 heterotaxy with congenital heart disease and situs inversus totalis. Immotile airway cilia are also seen.