This strain, carrying undefined mutations b2b2153.1Clo and b2b2153.2Clo, 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 (b2b2153.1Clo) demonstrate cardiac defects including double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy. Craniofacial defect with micrognathia, cleft palate, and eye defects are also seen. The b2b2153.2Clo mutation is associated with biventricular hypertrophy, a curly tail, low set ears, cleft palate, micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia.
