This undefined 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 complex congenital heart disease associate with heterotaxy, such as Taussig-Bing type double outlet right ventricle (DORV) associated with dextrocardia or dextroversion, and atrioventricular septal defect (AVSD). Right and left lung isomerism, immotile/abnormal airway cilia dysmotility, and kidney cysts are also seen.