Genetically modified rodent models of SCA17

J Neurosci Res. 2017 Aug;95(8):1540-1547. doi: 10.1002/jnr.23984. Epub 2016 Nov 18.

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.

Keywords: HDL4; Huntington disease-like 4; SCA17; spinocerebellar ataxia type 17.

Publication types

  • Review
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Disease Models, Animal*
  • Phenotype
  • Rodentia
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / metabolism
  • Spinocerebellar Ataxias / physiopathology
  • TATA-Box Binding Protein / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • TATA-Box Binding Protein

Supplementary concepts

  • Spinocerebellar Ataxia 17