These mice carry a duplication of a 3.9 Mb region on chromosome 16 and are trisomic for the mouse chromosome segment that is orthologus to the human chromosome 21 Down syndrome critical region.
Roger H Reeves, Johns Hopkins University School of Medicine
These mice are trisomic for the mouse chromosome segment orthologus to the human chromosome 21 Down syndrome critical region (DSCR). The borders of the 3.9 Mb region are defined by the carbonyl reductase 1 gene and a site adjacent to the myxovirus (influenza virus) resistance 2 locus. Trisomic mice are viable, fertile and are significantly larger than euploid littermates. Mandible size is enlarged as is skull size, with an overall elongation of the rostrocaudal aspect in comparison to euploid littermates. This mouse may be useful in studies exploring the consequences of polyploidy involving the DSCR.
A targeting vector was used to introduce a sequence encoding a 3'portion of a neomycin resistance gene, a loxP site and a hygromycin resistance gene at the carbonyl reductase 1 locus in 129S6/SvEv-derived MC1 embryonic stem (ES) cells. Correctly targeted ES cells were selected and electroporated with another targeting vector designed to orient a puromycin resistance gene, a loxP site and a 5'portion of a neomycin resistance gene, adjacent to the myxovirus (influenza virus) resistance 2 locus. A CAGGS-cre expression vector was electroporated into ES cells harboring both targeted mutations. Cre-mediated recombinants that possessed a functional neomycin resistance gene were obtained and injected into ICR blastocysts. Chimeric animals were crossed to C57BL/6 mice for at least 8 generations (4/2005).
|Allele Name||duplication, Chr 16, H R Reeves 1|
|Allele Type||Targeted (Inserted expressed sequence)|
|Allele Synonym(s)||Dp(16Cbr1-ORF9)1Rhr; Ts1Rhr|
|Gene Symbol and Name||Dp(16Cbr1-Fam3b)1Rhr, duplication, Chr 16, H R Reeves 1|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||A duplication of a 3.9 Mb region on chromosome 16 was engineered by Cre-mediated recombination between inserted loxP sites located on different chromosomes. This duplicated segment contains mouse orthologs of 33 conserved and minimally conserved genes in the human Down syndrome critical region.|
|Mutations Made By|| |
Roger Reeves, Johns Hopkins University School of Medicine
When maintaining a live colony, these mice are maintained in a trisomic state by crossing to wildtype C57BL/6J mice.
When using the Ts1Rhr mouse strain in a publication, please cite the originating article(s) and include JAX stock #005383 in your Materials and Methods section.