Murine models for Down syndrome

Mara Dierssen, Cristina Fillat, Linda Crnic, Mariona Arbonés, Jesús Flórez, Xavier P. Estivill

Research output: Contribution to journalReview article

55 Citations (Scopus)


The availability of the recently published DNA sequence of human chromosome 21 (HSA21) is a landmark contribution that will have an immediate impact on the study of the role of specific genes to Down syndrome (DS). Trisomy 21 or DS is the only autosomal aneuploidy that is not lethal in the fetal or early postnatal period. DS phenotypes show variable penetrance, affecting many different organs, including brain (mental retardation, early onset of Alzheimer's disease, AD), muscle (hypotonia), skeleton, and blood. DS phenotypes may stem directly from the cumulative effect of overexpression of specific HSA21 gene products or indirectly through the interaction of these gene products with the whole genome, transcriptome, or proteome. Mouse genetic models have played an important role in the elucidation of the contribution of specific genes to the DS phenotype. To date, the strategies used for modeling DS in mice have been three: (1) to assess single-gene contributions to DS phenotype, using transgenic techniques to create models overexpressing single or combinations of genes, (2) to assess the effects of overexpressing large foreign DNA pieces, introduced on yeast artificial chromosomes (YACs) or bacterial artificial chromosomes (BACs) into transgenic mice, and (3) mouse trisomies that carry all or part of MMU16, which has regions of conserved homology with HSA21. Here we review the existing murine models and the relevance of their contribution to DS research.

Original languageEnglish
Pages (from-to)859-871
Number of pages13
JournalPhysiology and Behavior
Issue number5
Publication statusPublished - 2001
Externally publishedYes



  • BAC
  • Central nervous system
  • Down syndrome
  • Hypotonia
  • Learning
  • Memory
  • Mental retardation
  • Mouse
  • Transgenic
  • Trisomic
  • YAC

ASJC Scopus subject areas

  • Experimental and Cognitive Psychology
  • Philosophy
  • Behavioral Neuroscience

Cite this

Dierssen, M., Fillat, C., Crnic, L., Arbonés, M., Flórez, J., & Estivill, X. P. (2001). Murine models for Down syndrome. Physiology and Behavior, 73(5), 859-871.