Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome

Michael R. Hunsaker, Gloria Arque, Robert F Berman, Rob Willemsen, Renate K. Hukema

Research output: Chapter in Book/Report/Conference proceedingChapter

14 Scopus citations

Abstract

The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.

Original languageEnglish (US)
Title of host publicationResults and Problems in Cell Differentiation
Pages255-269
Number of pages15
Volume54
DOIs
StatePublished - 2012

Publication series

NameResults and Problems in Cell Differentiation
Volume54
ISSN (Print)00801844
ISSN (Electronic)18610412

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ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

Hunsaker, M. R., Arque, G., Berman, R. F., Willemsen, R., & Hukema, R. K. (2012). Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome. In Results and Problems in Cell Differentiation (Vol. 54, pp. 255-269). (Results and Problems in Cell Differentiation; Vol. 54). https://doi.org/10.1007/978-3-642-21649-7_14