Primary Identifier | MGI:2183279 | Allele Type | Targeted |
Attribute String | Null/knockout, Reporter | Gene | Lrp5 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |