• Register
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.


Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.


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

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


  • O'Doherty A
  • Ruf S
  • Mulligan C
  • Hildreth V
  • Errington ML
  • Cooke S
  • Sesay A
  • Modino S
  • Vanes L
  • Hernandez D
  • Linehan JM
  • Sharpe PT
  • Brandner S
  • Bliss TV
  • Henderson DJ
  • Nizetic D
  • Tybulewicz VL
  • Fisher EM


Science (New York, N.Y.)

Publication Data

September 23, 2005

Associated Grants

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

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