This 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 persistent truncus arteriosus (PTA), aortic arch anomalies (interrupted aortic arch (IAA), right aortic arch (RAA), vascular ring), atrioventricular septal defect, and biventricular hypertrophy. Anophthalmia, anencephaly, agnathia with proboscis, low set ears, microstomia (otocephaly), hypoplastic thymus, kidney defects with hydronephrosis, kidney cysts, and omphalocoele are also seen.