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 a double outlet right ventricle (DORV), pulmonary atresia/hypoplastic pulmonary artery (PA), atroventricular septal defect (AVSD), and right aortic arch (RAA). Craniofacial defects (no mouth/nostril openings, no lower jaw/micrognathia, holoprosencephaly, anopthalmia/enopthalmia/micropthalmia) are also seen.