This mutant strain, carrying at least two mutations, 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.
Two mutant phenotypes are observed. In the first (associated with the Snx17 gene, sorting nexin 17), homozygotes demonstrate double outlet right ventricle (DORV)/overriding aorta (Ao), and atrioventricular septal defect (AVSD). Anopthalmia and duplex kidneys are also seen.
In the second phenotype (associated with the Lrp2 gene, low density lipoprotein receptor-related protein 2), persistent truncus arteriosus (PTA), aortic arch anomalies, and vascular ring are seen. Agnathia, microstomia, holoprosencephaly, omphalocele, and low set ears are also seen.