title: Genetically modified rodent models of SCA17.
abstract: Spinocerebellar ataxia type 17 (SCA17) is a type of autosomal dominant cerebellar ataxia (ADCA) characterized by variable manifestations, including cerebellar ataxia, dementia, and psychiatric symptoms. Since the identification of a CAG repeat expansion in the TATA-box binding protein (TBP) gene in a patient with ataxia in 1999 and then verification of this expansion in patients with SCA17 in 2001, several SCA17 rodent models, including both knock-in and transgenic models in mice and rats, have been established to explore the phenotypic features and pathogenesis of SCA17. These animal models revealed different pathological changes and phenotypes that are associated with the expression of mutant TBP protein and the CAG repeat lengths. It is important to understand how mutant TBP can cause differential pathological events in SCA17 animal models. In this review, we summarize and compare these animal models for the nature of transgenes and their expression as well as phenotypical features. We also discuss potential directions for future studies. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.|Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Yiting
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Su
authors.initials: S
authors.lastname: Yang
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Xiao-Jiang
authors.initials: XJ
authors.lastname: Li
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Shihua
authors.initials: S
authors.lastname: Li
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D004195:Disease Models, Animal; D010641:Phenotype; D012377:Rodentia; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D035181:TATA-Box Binding Protein / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D035181:TATA-Box Binding Protein
keywords: HDL4; Huntington disease-like 4; SCA17; spinocerebellar ataxia type 17