Handbook of the Cerebellum and Cerebellar Disorders pp 1541-1561 | Cite as
Rolling Nagoya Mouse
The natural mutant mouse rolling Nagoya has an uncoordinated gait and frequently displays sideways body rolls. The mutation underlying this autosomal recessively inherited severely ataxic motor phenotype is present in Cacna1a, the gene encoding the pore-forming α1 subunit of CaV2.1 type voltage-gated Ca2+ channels. This type of channel is crucially involved in neuronal Ca2+ signaling and in neurotransmitter release from nerve terminals at many central synapses and, in the periphery, at the neuromuscular junction. This chapter reviews the phenotypic, motor behavioral, histological, biochemical, neurophysiological, and electrophysiological findings in this mouse mutant. Human neurological diseases exist which are associated with CaV2.1 dysfunction (“Ca2+-channelopathy”), either due to CACNA1A mutation or autoimmune attack. The relevance of the rolling Nagoya mouse mutant as a model for these diseases is discussed.
KeywordsPurkinje Cell Tyrosine Hydroxylase Cerebellar Ataxia Cerebellar Purkinje Cell Congenital Myasthenic Syndrome
The studies of A.M.J.M. v.d. M are supported by the Centre for Medical Systems Biology (CMSB) in the framework of the Netherlands Genomics Initiative (NGI).