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Lrp5tm1Kry
Targeted Allele Detail
Nomenclature
Symbol: Lrp5tm1Kry
Name: low density lipoprotein receptor-related protein 5; targeted mutation 1, Gerard Karsenty
MGI ID: MGI:2183279
Synonyms: Lrp5-, Lrp5lacZ
Gene: Lrp5  Location: Chr19:3584828-3686564 bp, - strand  Genetic Position: Chr19, 3.33 cM, cytoband B
Low bone mass in Lrp5tm1Kry/Lrp5tm1Kry mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75973
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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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)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Lrp5 Mutation:  8 strains or lines available
References
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
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory