Anatomical phenotyping in a mouse model of fragile X syndrome with magnetic resonance imaging

Neuroimage. 2010 Nov 15;53(3):1023-9. doi: 10.1016/j.neuroimage.2010.03.038. Epub 2010 Mar 19.


Fragile X Syndrome (FXS) is the most common single gene cause of inherited mental impairment, and cognitive deficits can range from simple learning disabilities to mental retardation. Human FXS is caused by a loss of the Fragile X Mental Retardation Protein (FMRP). The fragile X knockout (FX KO) mouse also shows a loss of FMRP, as well as many of the physical and behavioural characteristics of human FXS. This work aims to characterize the anatomical changes between the FX KO and a corresponding wild type mouse. Significant volume decreases were found in two regions within the deep cerebellar nuclei, namely the nucleus interpositus and the fastigial nucleus, which may be caused by a loss of neurons as indicated by histological analysis. Well-known links between these nuclei and previously established behavioural and physical characteristics of FXS are discussed. The loss of FMRP has a significant effect on these two nuclei, and future studies of FXS should evaluate the biochemical, physiological, and behavioral consequences of alterations in these key nuclei.

MeSH terms

  • Animals
  • Cerebellar Nuclei / pathology*
  • Disease Models, Animal
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology*
  • Image Processing, Computer-Assisted
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Phenotype
  • Tomography, X-Ray Computed


  • Fmr1 protein, mouse
  • Fragile X Mental Retardation Protein