This undefined b2b370Clo 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 an abnormal right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries, supravalvular aortic stenosis (narrowed ascending aorta), thickened great artery walls, biventricular hypertrophy, and pulmonary branch stenosis. Proboscis, micrognathia, no mouth, holoposencephaly, and diaphragmatic hernia are also seen.