title: The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
abstract: Homozygous rolling Nagoya natural mutant mice display a severe ataxic gait and frequently roll over to their side or back. The causative mutation resides in the Cacna1a gene, encoding the pore-forming alpha(1) subunit of Ca(v)2.1 type voltage-gated Ca(2+) channels. These channels are crucially involved in neuronal Ca(2+) signaling and in neurotransmitter release at many central synapses and, in the periphery, at the neuromuscular junction. We here review the behavioral, histological, biochemical, and neurophysiological studies on this mouse mutant and discuss its usefulness as a model of human neurological diseases associated with Ca(v)2.1 dysfunction.
authors.affiliation: Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands. j.j.plomp@lumc.nl
authors.forename: Jaap J
authors.initials: JJ
authors.lastname: Plomp
authors.forename: Arn M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: Simon
authors.initials: S
authors.lastname: Kaja
mesh_terms: D000818:Animals; D020864:Calcium Channels, N-Type; D020865:Calcium Channels, P-Type / Q000235:genetics*; D020907:Calcium Channels, Q-Type / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008818:Mice, Neurologic Mutants; D008954:Models, Biological; D009469:Neuromuscular Junction / Q000503:physiopathology; D009435:Synaptic Transmission / Q000502:physiology
chemical_list: D020864:Calcium Channels, N-Type; D020865:Calcium Channels, P-Type; D020907:Calcium Channels, Q-Type