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Segmental trisomy as a mouse model for Down syndrome

M T Davisson1, C Schmidt, R H Reeves

  • 1Jackson Laboratory, Bar Harbor, Maine 04609.

Progress in Clinical and Biological Research
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

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Researchers developed segmentally trisomic mice for a specific region of mouse Chr 16, creating a viable Down Syndrome (Trisomy 21) model. This new model allows adult study of late-onset Down Syndrome features.

Area of Science:

  • Genetics
  • Developmental Biology
  • Animal Models

Background:

  • Mice trisomic for entire Chromosome (Chr) 16 serve as a model for human Down Syndrome (Trisomy 21).
  • Existing Chr 16 trisomic mouse models have limitations, including incompatibility with postnatal survival and trisomy for numerous non-conserved genes.
  • This necessitates improved animal models for studying Down Syndrome.

Purpose of the Study:

  • To develop and characterize a novel mouse model trisomic for a specific segment of mouse Chr 16.
  • This segment is conserved in human Chr 21, aiming for a more accurate Down Syndrome model.
  • To assess the viability and potential utility of this segmentally trisomic model for Down Syndrome research.

Main Methods:

  • Development of segmentally trisomic mice, designated Ts(17(16)) 65Dn.

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  • These mice carry trisomy for a defined chromosomal segment homologous to human Chr 21.
  • Preliminary characterization of the Ts(17(16)) 65Dn mouse model.

    • Main Results:

    • Successful development of segmentally trisomic mice (Ts(17(16)) 65Dn) that survive to adulthood.
    • These mice exhibit trisomy for a specific Chr 16 segment conserved with human Chr 21.
    • The model does not fully replicate all Down Syndrome features but offers a viable alternative.

    Conclusions:

    • Segmentally trisomic mice Ts(17(16)) 65Dn provide a viable adult model for Down Syndrome research.
    • This model may be instrumental in studying late-onset Down Syndrome phenotypes.
    • Potential applications include research into infection susceptibility, leukemia incidence, and Alzheimer-like neuropathology in Down Syndrome.