The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
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.
Plomp
Jaap J
JJ
Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands. j.j.plomp@lumc.nl
van den Maagdenberg
Arn M J M
AM
Kaja
Simon
S
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
D020864:Calcium Channels, N-Type; D020865:Calcium Channels, P-Type; D020907:Calcium Channels, Q-Type