B6129S-Tc(HSA21)1TybEmcf/J

Stock number: 010801
Product name: Tc1
Strain synonyms: Tc(HSA21)91-1Emcf
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

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.

Detailed description

Tc1 mice carrying a human fragment of Chromosome 21 (Hsa21) are viable, fertile, and normal in size. Only the female carriers consistently transmit 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 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). The Tc1 mouse exhibits several characteristics of DS, including 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.

Development

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)  for at least one generation to establish the colony. Tc1 females were subsequently bred to B6129S8F1/J males to maintain the live colony.

Allele

Symbol: Tc(HSA21)1TybEmcf
Name: transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher
MGI accession ID: MGI:3814712
Generation method: Not Applicable
Attributes: Inserted expressed sequence; Humanized sequence
Marker symbol: Tc(HSA21)1TybEmcf
Marker name: transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher
Chromosome: UN
Strain of origin: 129S2/SvPas
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.
General note: ES cell line = MPI-VI.