Lrp5^tm1Kry

The extracellular domain of the gene was disrupted by insertion of an IRES-lacZ-neo cassette at codon 373 via homologous recombination. The targeted mutation resembles a mutation found in patients with osteoporosis-pseudoglioma syndrome. Northern blot analysis of livers from homozygous mutant animals did not detect gene transcripts using a probe to exons 10-12, but a probe to exons 1-2 detected a truncated transcript. Immunohistochemistry detected a truncated protein in osteoblasts of homozygous mutants. (J:75973)