This undefined mutation 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 phenotypic groups are associated with this strain. In the first, homozygotes demonstrate cardiovascular defects that involve hypoplastic right heart syndrome (HRHS). In the second, biventricular hypertrophy is found.