title: Automated behavioral phenotyping reveals presymptomatic alterations in a SCA3 genetrap mouse model.
abstract: Characterization of disease models of neurodegenerative disorders requires a systematic and comprehensive phenotyping in a highly standardized manner. Therefore, automated high-resolution behavior test systems such as the homecage based LabMaster system are of particular interest. We demonstrate the power of the automated LabMaster system by discovering previously unrecognized features of a recently characterized atxn3 mutant mouse model. This model provided neurological symptoms including gait ataxia, tremor, weight loss and premature death at the age of 12 months usually detectable just 2 weeks before the mice died. Moreover, using the LabMaster system we were able to detect hypoactivity in presymptomatic mutant mice in the dark as well as light phase. Additionally, we analyzed inflammation, immunological and hematological parameters, which indicated a reduced immune defense in phenotypic mice. Here we demonstrate that a detailed characterization even of organ systems that are usually not affected in SCA3 is important for further studies of pathogenesis and required for the preclinical therapeutic studies.
authors: Department of Medical Genetics, University of Tübingen, Tübingen 72076, Germany. jeannette.huebener@med.uni-tuebingen.de
authors: Jeannette
authors: J
authors: Hübener
authors: Nicolas
authors: N
authors: Casadei
authors: Peter
authors: P
authors: Teismann
authors: Mathias W
authors: MW
authors: Seeliger
authors: Maria
authors: M
authors: Björkqvist
authors: Stephan
authors: S
authors: von Hörsten
authors: Olaf
authors: O
authors: Riess
authors: Huu Phuc
authors: HP
authors: Nguyen
mesh_terms: D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism; D000818:Animals; D000067699:Ataxin-3; D001522:Behavior, Animal; D004195:Disease Models, Animal; D017827:Machado-Joseph Disease / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D017628:Microglia / Q000276:immunology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D014157:Transcription Factors; D000067699:Ataxin-3; C511594:Atxn3 protein, mouse