The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration

DNA Repair (Amst). 2013 Aug;12(8):612-9. doi: 10.1016/j.dnarep.2013.04.014. Epub 2013 Jun 2.


Patients with ataxia-telangiectasia (A-T) are characterised by genome instability, cancer predisposition and a progressive neurodegeneration. A number of model systems have been developed for A-T but none recapitulate all the phenotype. The majority of these models have been generated in mice. While Atm deficient mouse models exhibit much of the phenotype described in patients with A-T, the broad consensus is that they do not display the most debilitating aspect of A-T, i.e. neurodegeneration. Cerebellar atrophy is one of the neuronal characteristics of A-T patients due to defects in neuronal development and progressive loss of Purkinje and granule cells. This is not evident in Atm-deficient mutants but there are multiple reports on neurological abnormalities in these mice. The focus of this review is to evaluate the appropriateness of Atm mutant mouse models for A-T, particularly with reference to neurological abnormalities and how they might relate to neurodegeneration.

Keywords: Ataxia-telangiectasia; Atm; Mouse models; Neurodegeneration.

Publication types

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

MeSH terms

  • Animals
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia / pathology
  • Ataxia Telangiectasia Mutated Proteins / genetics
  • Ataxia Telangiectasia Mutated Proteins / metabolism
  • Brain / cytology
  • Brain / metabolism
  • Brain / pathology
  • Disease Models, Animal*
  • Genetic Predisposition to Disease
  • Genomic Instability
  • Mice
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Neurons / cytology
  • Neurons / metabolism
  • Neurons / pathology*
  • Phenotype


  • Ataxia Telangiectasia Mutated Proteins