This T-to-C point mutation at position 1886 of the Cep110 (centrosomal protein 110) cDNA 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and hypoplastic right heart syndrome. Cystic kidney and hydronephrosis are also seen. This strain may be useful as a model of nephronophthisis, Meckel Gruber Syndrome, or Hypoplastic Right Heart Syndrome (HRHS).