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 heterotaxy with complex congenital heart anomalies such as dextrocardia, superior-inferior ventricles, pulmonary atresia, persistant truncus arteriosus (PTA), atrioventricular septal defect (AVSD), and common atrium, right aortic arch (RAA), and juxtaposition of atria. Preaxial and central polydactyly, cleft lip, micrognathia, as well as hypoplastic lungs and thymus are also seen. Animals also presented with tracheoesophageal anomalies such as tracheoesophageal fistula, absent trachea, and lungs connected to esophagus.