Of mice and the fragile X syndrome

Trends Genet. 2003 Mar;19(3):148-54. doi: 10.1016/s0168-9525(03)00017-9.


Fragile X syndrome is the most common cause of inherited mental retardation, and recently a number of mouse models have been generated to study the condition. Knockout of the gene associated with fragile X, Fmr1, results in mild, but consistent abnormalities, analogous to the clinical and pathological symptoms observed in human patients. Thus, many aspects of the syndrome can now be studied in mice, taking full advantage of the benefits of this model organism, including the short generation time and unlimited supply of tissue. The experimental data suggest that knockout of Fmr1 mildly disturbs a variety of processes in different brain regions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Behavior, Animal
  • Brain / pathology
  • Cognition
  • Disease Models, Animal*
  • Epilepsy / genetics
  • Forecasting
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Fragile X Syndrome / physiopathology
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mice
  • Mice, Inbred Strains
  • Mice, Knockout
  • Minisatellite Repeats
  • Models, Biological
  • Testis / pathology