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A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions.

Down syndrome (DS) is caused by the presence of an extra copy of human chromosome 21 (Hsa21) and is the most common genetic cause for developmental cognitive disability. The regions on Hsa21 are syntenically conserved with three regions located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. In this report, we describe a new mouse model for DS that carries duplications spanning the entire Hsa21 syntenic regions on all three mouse chromosomes. This mouse mutant exhibits DS-related neurological defects, including impaired cognitive behaviors, reduced hippocampal long-term potentiation and hydrocephalus. These results suggest that when all the mouse orthologs of the Hsa21 genes are triplicated, an abnormal cognitively relevant phenotype is the final outcome of the elevated expressions of these orthologs as well as all the possible functional interactions among themselves and/or with other mouse genes. Because of its desirable genotype and phenotype, this mutant may have the potential to serve as one of the reference models for further understanding the developmental cognitive disability associated with DS and may also be used for developing novel therapeutic interventions for this clinical manifestation of the disorder.

Pubmed ID: 20442137


  • Yu T
  • Li Z
  • Jia Z
  • Clapcote SJ
  • Liu C
  • Li S
  • Asrar S
  • Pao A
  • Chen R
  • Fan N
  • Carattini-Rivera S
  • Bechard AR
  • Spring S
  • Henkelman RM
  • Stoica G
  • Matsui S
  • Nowak NJ
  • Roder JC
  • Chen C
  • Bradley A
  • Yu YE


Human molecular genetics

Publication Data

July 15, 2010

Associated Grants

  • Agency: NHLBI NIH HHS, Id: R01HL091519

Mesh Terms

  • Animals
  • Cells, Cultured
  • Chromosomes, Human, Pair 21
  • Disease Models, Animal
  • Down Syndrome
  • Female
  • Hand Strength
  • Hippocampus
  • Humans
  • Male
  • Maze Learning
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Models, Biological
  • Physical Conditioning, Animal
  • Pregnancy
  • Synteny