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 double outlet right ventricle (DORV) with hypoplastic aortic arch. Mutant type 2 animals show biventricular hypertrophy. Anopthalmia/micropthalmia, craniofacial defects including agnathia, micrognathia and cleft palate are also seen.