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 biventricular hypertrophy, and aortic arch anomalies such as vascular ring. Cleft palate, microganthia, necrotic gut, short digits with oligodactyly/syndactyly, and club foot are also seen.