This T-to-A point mutation in the Ptk7 (PTK7 protein tyrosine kinase 7) 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), ventricular septal defect (VSD). Spina bifida, exencephaly, micrognathia, malaligned sternal vertebrae, short snout/short trunk, absent tail, preaxial digit duplication, omphalocele, and cystic kidneys are also seen.