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.
Animals homozygous for b2b243.1Clo demonstrate double outlet right ventricle (DORV), and membranous and muscular ventricular septal defects (VSD). Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, and polydactyly are also seen. Animals homozygous for b2b243.2Clo show biventricular hypertrophy. Anophthalmia and cleft palate are also seen.