This b2b134Clo 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 very likley segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), pulmonary stenosis (hypoplastic pulmonary artery), hypoplastic transverse arch, and coronary artery fistula. Hydronephrosis and kidney cysts are also seen.