International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


Oral Presentation

Wednesday 20 November

17:00 - 17:15 HRS

MICE WITH A PARTIAL TRISOMY OF CHROMOSOME 17 AS A MODEL OF HUMAN ANEUPLOIDY SYNDROMES

J Forejt
Institute of Molecular Genetics and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, Prague, Czech Republic

Co-Authors: 1) Vacik T, 1) Gregorova S, 2) Ort M, 2) Bures J, 3) Yaspo ML, 3) Lehrach H
Institutions: 1) Institute of Molecular Genetics and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, 2) Institute of Physiology, Academy of Sciences of the Czech Republic, 3) Max-Planck-Institut  for Molecular Genetics

Partial trisomy of mouse Chr 16 (Ts65Dn) is known as the best mouse model of Down syndrome because it includes most of the genes homologous to human Chr 21. Here we generated partial trisomy of mouse Chr 17 (Ts43H) with at least 14 triplicated genes in common with human Chr 21. By comparing the mouse non-overlapping trisomies at the phenotypic and gene expression levels, we hope to distinguish the traits that can be attributed to particular dosage-sensitive genes in the triplicated chromosome region from those controlled by genes outside the affected chromosomal interval. The Ts65Dn mice, like the Down syndrome patients, show impairment of spatial learning memory. We ask whether Ts43H trisomics show the same type of cognitive impairment even though they carry a different set of triplicated genes. The Ts43H mice and their normal, euploid littermates were tested with a battery of cognitive spatial tasks in a modified Morris water maze. The Ts43H trisomics displayed the cognitive deficit comparable to that observed in Ts65Dn in spite of the fact that both trisomic models harbor different sets of genes in three copies. The expression profiles of selected triplicated Chr 21 orthologs will be reported. Supported by GACR grant 309/00/1656 and by HHMI International Fellowship to J.F.


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