This 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.
Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxia with congenital heart disease: dextrocardia, double outlet right ventricle (DORV), possible crisscross heart, and bilateral inferior vena cavae (IVC). Slow and dyskinetic airway ciliary motion are also seen.