B6;129-Lrp5^tm1.1Mawa/J

Stock number: 012669
Research areas: Developmental Biology Research, Internal/Organ Research

Description

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.

Detailed description

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.

Development

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

Symbol: Lrp5^tm1.1Mawa
Name: targeted mutation 1.1, Matthew Warman
MGI accession ID: MGI:4453212
Generation method: Targeted
Attributes: Humanized sequence
Marker symbol: Lrp5
Marker name: low density lipoprotein receptor-related protein 5
Chromosome: 19
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
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.