This C-to-A point mutation in the Lrp2 (low density lipoprotein receptor-related protein 2) gene 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 persistent truncus arteriosis (PTA, Type A1, A2, A4), permembranous ventricular septal defects (pmVSD) and muscular ventricular septal defect (mVSD), right aortic arch (RAA), ventricular non-compaction, and ventricular hypertrophy. Short snout, anophthalmia/microphthalmia, short snount/micrognathia, hypoplastic thymus, incomplete closure of the umbilical herniation, cystic kidneys, hydrnephrosis, and hooked tail are also seen.