ArticlePloS one2012
New ataxic tottering-6j mouse allele containing a Cacna1a gene mutation.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.Cellular and molecular life sciences : CMLS · 2025Article
- Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.Scientific reports · 2017Article
- Protein expression pattern in cerebellum of Cav2.1 mutant, tottering-6j mice.Experimental animals · 2016Article
- Toll-Like Receptor 4 Deficiency Impairs Motor Coordination.Frontiers in neuroscience · 2016Article
- Rolling Nagoya mouse strain (PROD-rol/rol) with classic piebald mutation.The Journal of veterinary medical science · 2014Article
- Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Developing a pathway to clinical trials forTherapeutic advances in rare diseaseReview
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Voltage-gated Ca(2+) (Ca(v)) channels control neuronal functions including neurotransmitter release and gene expression. The Cacna1a gene encodes the α1 subunit of the pore-forming Ca(v)2.1 channel. Mice with mutations in this gene form useful tools for defining channel functions. The recessive ataxic tottering-6j strain that was generated in the Neuroscience Mutagenesis Facility at The Jackson Laboratory has a mutation in the Cacna1a gene. However, the effect of this mutation has not been investigated in detail. In this study, mutation analysis shows a base substitution (C-to-A) in the consensus splice acceptor sequence linked to exon 5, which results in the skipping of exon 5 and the splicing of exon 4 directly to exon 6. The effect of this mutation is expected to be severe as the expressed α1 subunit protein lacks a significant part of the S4-S5 linker, S5, and part of S5-S6 linker in domain I. Tottering-6j mice display motor dysfunctions in the footprint, rotating rod, and hind-limb extension tests. Although cytoarchitecture of the mutant brains appears normal, tyrosine hydroxylase was persistently expressed in cerebellar Purkinje cells in the adult mutant mice. These results indicate that tottering-6j is a useful model for functional studies of the Ca(v)2.1 channel.
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