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An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.

Science (New York, N.Y.) | Sep 23, 2005

Aneuploidies are common chromosomal defects that result in growth and developmental deficits and high levels of lethality in humans. To gain insight into the biology of aneuploidies, we manipulated mouse embryonic stem cells and generated a trans-species aneuploid mouse line that stably transmits a freely segregating, almost complete human chromosome 21 (Hsa21). This "transchromosomic" mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in humans, and has phenotypic alterations in behavior, synaptic plasticity, cerebellar neuronal number, heart development, and mandible size that relate to human DS. Transchromosomic mouse lines such as Tc1 may represent useful genetic tools for dissecting other human aneuploidies.

Pubmed ID: 16179473 RIS Download

Mesh terms: Aneuploidy | Animals | Behavior, Animal | Brain | Cell Count | Cell Line | Chimera | Chromosomes, Human, Pair 21 | Disease Models, Animal | Down Syndrome | Embryo, Mammalian | Facial Bones | Female | Gene Expression | Genetic Engineering | Genetic Markers | Heart Defects, Congenital | Hippocampus | Humans | Long-Term Potentiation | Lymphocyte Activation | Male | Maze Learning | Memory | Mice | Mice, Inbred Strains | Mice, Transgenic | Neurons | Oligonucleotide Array Sequence Analysis | Phenotype | Skull | Stem Cells | Synaptic Transmission | T-Lymphocytes

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Associated grants

  • Agency: Wellcome Trust, Id: 076700
  • Agency: Medical Research Council, Id: MC_U117512674

Mouse Genome Informatics (Data, Gene Annotation)

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