A T-to-A point mutation in Ccdc39 (coiled-coil domain containing 39) 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 complex congenital heart disease (CHD) associated with heterotaxy such as double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and dextrocardia associated with situs inversus totalis. Immotile airway cilia are also seen.