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 Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totalis without congenital heart defects. Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis and cystic kidneys are also seen.