This strain, carrying undefined mutations b2b243.1Clo and b2b243.2Clo, 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 of mutant type 1 demonstrate a truncus arteriosus (PTA) with right aortic arch. Mutant type 2 shows cystic kidney and hydronephrosis.