This strain has been discontinued.
Please consider a related strain (Stock No. 001815). Alternatively, please search the JAX Mice database for other strains which may be suitable for your studies or contact Technical Support for assistance.
Daniel J. McBride, University of Maryland, Schl of Medicine
These mice harbor a point mutation knock-in patterned after the variant found among Old Order Amish kindred (OOA) of Lancaster County, Pennsylvania. Mice exhibit reduced body mass and reduced bone mass density by 2 months of age. Homozygotes do not survive to weaning age. These mutant mice express mutant type I collagen similar to that observed in humans with osteogenesis imperfecta. Incorporation of the point mutation was verified by sequence analysis. Mutant mRNA is detected by RT-PCR analysis of total RNA.
A targeting vector containing a loxP flanked neomycin resistance cassette was used to introduce a point mutation equivalent to the human G610C mutation, into exon 33 (Note: mouse exon 33 is equivalent to human exon 35). The construct was electroporated into 129/SvEv derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient C57BL/6J blastocysts. The resulting chimeric animals were bred to C57BL/6J. Male animals were then crossed to B6.FVB-Tg(EIIa-cre)C5379Lmgd/J female mice (Stock No. 003724) to remove the selection cassette. The mice were backcrossed to C57BL/6J for 4 generations before arriving at The Jackson Laboratory. Upon arrival the mice were backcrossed to C57BL/6J for 1 generation.
|Allele Name||targeted mutation 1.1, Daniel J McBride|
|Allele Type||Targeted (Inserted expressed sequence)|
|Allele Synonym(s)||G610C Neo-; G610C OI (Amish)|
|Gene Symbol and Name||Col1a2, collagen, type I, alpha 2|
|Promoter||Col1a2, collagen, type I, alpha 2, mouse, laboratory|
|Strain of Origin||129/SvEv|
|Molecular Note||A floxed neo cassette was inserted upstream of exon 35 and a G to T mutation was inserted in exon 35 resulting in a glycine to cysteine mutation at codon 706. Cre mediated recombination removed the neo cassette.|
|Mutations Made By|| |
Daniel McBride, University of Maryland, Schl of Medicine
When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes do not survive to weaning. The donating investigator uses a breeding scheme of heterozygote x wildtype. Please note: heterozygous mice exhibit reduced body mass and reduced bone mass density by 2 months of age.