This T-to-A point mutation at position 4670 of the Cep290 (centrosomal protein 290) 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 congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia. Cystic kidney with tubular and glomerular cysts, open eyes, and micrognathia are also seen.