This strain is currently unavailable due to replenishing of cryopreserved stocks.
These Tc1 mice contain 42Mb (approximately 90%) of a freely segregating human fragment of Chromosome 21 Hsa21 containing 269 genes, including most of the gene orthologs located on mouse Chromosome 10 (Mmu10), Mmu16, and Mmu17, which have been found to contribute to human Down Syndrome (DS). These mice may be useful for studying the genes involved in human chromosome aneuploidy and its role in DS.
Elizabeth MC Fisher, UCL Institute of Neurology
Mice carrying a human fragment of Chromosome 21 (Hsa21) are viable, fertile, and normal in size, only the female carriers consistently transmits the mutation to the germline. When maintained on a background other than (C57BL/6 X 129S8/SvEv) germline transmission is completely abolished. These Tc1 mice contain 42Mb (approximately 83%) of a freely segregating Hsa21 containing 269 genes, including most of the gene orthologs located on mouse Chromosome 10 (Mmu10), Mmu16, and Mmu17, which have been found to contribute to human Down Syndrome (DS). This mouse strain represents the most complete model of DS, exhibiting alterations in behavior, learning, memory, synaptic plasticity, cerebellar neuronal number, heart development, mandible size, defects in motor coordination, perturbed hematopoiesis, and reduced tumor angiogenesis. These mice may be useful for studying the genes involved in human chromosome aneuploidy and its role in DS.
This transchromosomal mouse contains a freely segregating human fragment of Chromosome 21 (Hsa21). More specifically, the entire Hsa21 was introduced to female 129S2/SvPas-derived MPI-VI embryonic stem (ES) cells via irradiation microcell-mediated chromosome transfer (XMMCT). Cell line 91-1, which contained 42Mb (approximately 90%) of Hsa21, was injected into blastocysts, and the resulting chimeric females were bred to C57BL/6J males for germline transmission. Offspring that were bred to (C57BL/6J x 129S8)F1 mice retained stable transmission of Hsa21 and were used to establish a colony of Tc1 mice. Upon arrival at The Jackson Laboratory, Tc1 females mice were bred to B6129S8F1/J males (Stock No. 012868) males for at least one generation to establish the colony. Tc1 females were subsequently bred to B6129S8F1/J males to maintain the live colony.
|Allele Name||transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher|
|Allele Type||Not Applicable (Inserted expressed sequence, Humanized sequence)|
|Allele Synonym(s)||transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher; Tc(HSA21)1TybEmcf|
|Gene Symbol and Name||Tc(HSA21)1TybEmcf, transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher|
|Gene Synonym(s)||Tc(HSA21)91-1Emcf; Tc(HSA21)91-1Emcf; transchromosomal, human 21, line 91-1 Elizabeth M C Fisher|
|Strain of Origin||129S2/SvPas|
|General Note||ES cell line = MPI-VI.|
|Molecular Note||A freely segregating chromosome composed of 42 Mb, or 90%, of human chromosome 21 (spanning D21S5-CXADR, D21S1922-IFNAR1 and RUNX1-COL6A1) was created in MPI-VI (129S2/SvPas) ES cells using irradiated microcell-mediated chromosome transfer.|
When maintaining a live colony, Tc1 females are bred to B6129S8F1/J males (Stock No. 012868) to maintain the live colony. Tc1 males do not consistently transmit mutation to germline, and transmission is completely lost on some congenic backgrounds.
When using the Tc1 mouse strain in a publication, please cite the originating article(s) and include JAX stock #010801 in your Materials and Methods section.
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