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| Nomenclature |
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Symbol:
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Lrp5tm1Kry
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Name:
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low density lipoprotein receptor-related protein 5;
targeted mutation 1, Gerard Karsenty
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MGI ID: |
MGI:2183279 |
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Synonyms: |
Lrp5-, Lrp5lacZ |
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Gene:
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Lrp5
Location:
Chr19:3584828-3686564 bp, - strand
Genetic Position: Chr19,
3.33 cM, cytoband B
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Low bone mass in Lrp5tm1Kry/Lrp5tm1Kry mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:75973
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Lrp5 Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:75973
Kato M et al.,
"Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor."
J Cell Biol 2002 Apr 15;157(2):303-14
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All: |
13 reference(s)
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Analysis Tools
