This mutant strain, carrying at least two mutations, 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.
Two mutant phenotypes are observed. In the first (associated with the Slit3, slit homolog 3 (Drosophila) gene), animals demonstrate double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis. Gastroschisis with ectopia cordis is also seen. Homozygous b2b2362.2Clo animals show biventricular hypertrophy, and craniofacial defects including facial cleft/cleft lip, short snout, micrognathia, and dome shaped head.