Article
A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.
Human molecular genetics - 15 Nov 2015
Campbell Andrew, Krupp Brittany, Bushman Jared, Noble Mark, Pröschel Christoph, Mayer-Pröschel Margot
Abstract excerpt
Ataxia-telangiectasia (A-T) is a rare multi-system disorder caused by mutations in the ATM gene. Significant heterogeneity exists in the underlying genetic mutations and clinical phenotypes. A number of mouse models have been generated that harbor mutations in the distal region of the gene, and a recent study suggests the presence of residual ATM protein in the brain of one such model. These mice recapitulate...
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