Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

L Mangiarini, K Sathasivam, M Seller, B Cozens, A Harper, C Hetherington, M Lawton, Y Trottier, H Lehrach, S W Davies, G P Bates

Research output: Contribution to journalArticlepeer-review

2681 Citations (Scopus)

Abstract

Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.
Original languageEnglish
Pages (from-to)493-506
Number of pages14
JournalCell
Volume87
Issue number3
DOIs
Publication statusPublished - 1 Nov 1996

Keywords

  • Animals
  • Brain
  • Disease Models, Animal
  • Exons
  • Female
  • Humans
  • Huntington Disease
  • Male
  • Mice
  • Mice, Neurologic Mutants
  • Mice, Transgenic
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Phenotype
  • Spinal Cord
  • Transgenes
  • Trinucleotide Repeats

Fingerprint

Dive into the research topics of 'Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice'. Together they form a unique fingerprint.

Cite this