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

Tao Yu, Zhongyou Li, Zhengping Jia, Steven J. Clapcote, Chunhong Liu, Shaomin Li, Suhail Asrar, Annie Pao, Rongqing Chen, Ni Fan, Sandra Carattini-Rivera, Allison R. Bechard, Shoshana Spring, R. Mark Henkelman, George Stoica, Sei Ichi Matsui, Norma J. Nowak, John C. Roder, Chu Chen, Allan BradleyY. Eugene Yu

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Article numberddq179
Pages (from-to)2780-2791
Number of pages12
JournalHuman molecular genetics
Issue number14
StatePublished - May 4 2010

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Yu, T., Li, Z., Jia, Z., Clapcote, S. J., Liu, C., Li, S., Asrar, S., Pao, A., Chen, R., Fan, N., Carattini-Rivera, S., Bechard, A. R., Spring, S., Henkelman, R. M., Stoica, G., Matsui, S. I., Nowak, N. J., Roder, J. C., Chen, C., ... Yu, Y. E. (2010). A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. Human molecular genetics, 19(14), 2780-2791. [ddq179]. https://doi.org/10.1093/hmg/ddq179