The tottering mouse

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

In the late 1950s, a novel spontaneous mutation was found in the same litter of mice while breeding by Green and Sidman at the Roscoe B. Jackson Memorial Laboratory in Maine. Mice harboring this mutation, which was found to be recessive, were termed tottering (tg/tg) mice, and exhibited a series of neurological abnormalities, including a paroxysmal motor disturbances (dyskinesia/dystonia), a wobbly ataxic gait, and absence seizures. Since the initial discovery of this mutation, numerous studies have investigated the underlying genetics and behavioral consequences in the tg/tg mouse, and this mouse has proven useful in our understanding of several episodic neurological disorders involving the cerebellum. Caused by a mutation in the Cacna1a gene that encodes the P/Q-type voltage-gated Ca channel, the tg/tg mouse is a model for the human disorder episodic ataxia type 2 (EA2), and has provided insights into the mechanisms of episodic cerebellar dysfunction.

Original languageEnglish (US)
Title of host publicationEssentials of Cerebellum and Cerebellar Disorders
Subtitle of host publicationA Primer for Graduate Students
PublisherSpringer International Publishing
Pages437-442
Number of pages6
ISBN (Electronic)9783319245515
ISBN (Print)9783319245492
DOIs
StatePublished - Jan 1 2016

Keywords

  • Ataxia
  • CACNA1A
  • Channelopathies
  • Dystonia
  • EA2

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