A fully humanized transgenic mouse model of Huntington disease

Research output: Contribution to journalJournal articleResearchpeer-review

  • Amber L Southwell
  • Simon C Warby
  • Jeffrey B Carroll
  • Crystal N Doty
  • Skotte, Niels
  • Weining Zhang
  • Villanueva, Erika
  • Vlad Kovalik
  • Yuanyun Xie
  • Mahmoud A Pouladi
  • Jennifer A Collins
  • X William Yang
  • Sonia Franciosi
  • Michael R Hayden

Silencing the mutant huntingtin gene (muHTT) is a direct and simple therapeutic strategy for the treatment of Huntington disease (HD) in principle. However, targeting the HD mutation presents challenges because it is an expansion of a common genetic element (a CAG tract) that is found throughout the genome. Moreover, the HTT protein is important for neuronal health throughout life, and silencing strategies that also reduce the wild-type HTT allele may not be well tolerated during the long-term treatment of HD. Several HTT silencing strategies are in development that target genetic sites in HTT that are outside of the CAG expansion, including HD mutation-linked single-nucleotide polymorphisms and the HTT promoter. Preclinical testing of these genetic therapies has required the development of a new mouse model of HD that carries these human-specific genetic targets. To generate a fully humanized mouse model of HD, we have cross-bred BACHD and YAC18 on the Hdh(-/-) background. The resulting line, Hu97/18, is the first murine model of HD that fully genetically recapitulates human HD having two human HTT genes, no mouse Hdh genes and heterozygosity of the HD mutation. We find that Hu97/18 mice display many of the behavioral changes associated with HD including motor, psychiatric and cognitive deficits, as well as canonical neuropathological abnormalities. This mouse line will be useful for gaining additional insights into the disease mechanisms of HD as well as for testing genetic therapies targeting human HTT.

Original languageEnglish
JournalHuman Molecular Genetics
Volume22
Issue number1
Pages (from-to)18-34
Number of pages17
ISSN0964-6906
DOIs
Publication statusPublished - 1 Jan 2013
Externally publishedYes

    Research areas

  • Animals, Disease Models, Animal, Gene Silencing, Humans, Huntington Disease, Mice, Mice, Transgenic, Mutation, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Rotarod Performance Test

ID: 153451538