These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. Homozygotes show an abnormally high bone density. This strain may be useful in studies of bone development and homeostasis.
Matthew Warman, Boston Children's Hospital, Harvard Medical School
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Humanized sequence) | Lrp5 | low density lipoprotein receptor-related protein 5 |
These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. Expression of the mutant protein is detectable in whole femur mRNA at levels comparable to those of wildtype mice. Homozygotes show an abnormally high bone density. Heterozygotes also show significantly increased bone mass and strength compared to wildtype mice. This strain may be useful in studies of bone development and homeostasis.
Glycine 170 of the targeted gene was converted to valine (equivalent to the human G171V missense mutation) via site-directed mutagenesis in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. A floxed neomycin selection cassette placed in intron 2 was excised through a cross with an EIIa-cre strain on a C57BL/6 background (see Stock No. 003724. This strain was minimally backcrossed to C57BL/6 by the donating laboratory.
Allele Name | targeted mutation 1.1, Matthew Warman |
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Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | G; Lrp5 G171V |
Gene Symbol and Name | Lrp5, low density lipoprotein receptor-related protein 5 |
Gene Synonym(s) | |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 19 |
Molecular Note | Glycine 170 of the targeted gene was converted to valine (equivalent to the human G171V missense mutation) via site-directed mutagenesis. Cre mediated recombination removed the floxed neo cassette. |
When maintained as a live colony, heterozygous or homozygous mice may be bred. Homozygotes are reportedly born at expected Mendelian frequencies. Cranial nerve and blood vessel compression due to excessive bone development may be problematic in older homozygotes.
When using the B6;129-Lrp5tm1.1Mawa/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #012669 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Lrp5<tm1.1Mawa> |
Frozen Mouse Embryo | B6;129-Lrp5<tm1.1Mawa>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Lrp5<tm1.1Mawa>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Lrp5<tm1.1Mawa>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6;129-Lrp5<tm1.1Mawa>/J Frozen Embryo | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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