This T- to A- point mutation (c.438+2T-A) in Dnah5 (dynein, axonemal, heavy chain 5) 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 abdominal situs ambiguous and congenital heart disease (CDH) that includes dextrocardia wih double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD). Immotile airway cilia with an outer dynein arm defect are also seen. The phenotype is similar to that of human Primary Ciliary Dyskinesia, Kartagener's syndrome, and Heterotaxy.