title: The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration.
abstract: 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.
authors.affiliation: Queensland Institute of Medical Research, Radiation Biology and Oncology, Brisbane, QLD 4029, Australia. martin.lavin@qimr.edu.au
authors.forename: Martin F
authors.initials: MF
authors.lastname: Lavin
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D042822:Genomic Instability; D051379:Mice; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology; D009474:Neurons / Q000166:cytology / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
chemical_list: D064007:Ataxia Telangiectasia Mutated Proteins
keywords: Ataxia-telangiectasia; Atm; Mouse models; Neurodegeneration