This A-to-G point mutation at position 6875 of the Frem2 (Fras1 related extracellular matrix protein 2) 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 a noncardiac phenotype that involves bilateral kidney agenesis, polydactly, syndactyly and malformed digits.