This Odad2 (outer dynein arm docking complex subunit 2) mutation 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve situs inversus totalis, heterotaxy with congenital heart disease, double outlet right ventricle (DORV) and perimembranous ventricular septal defect (VSD). Dyskinetic, slow, or immotile airway cilia are also seen.