ArticleMammalian genome : official journal of the International Mammalian Genome Society2004
Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Article
- Prioritizing the development of mouse models for childhood brain disorders.Neuropharmacology · 2016Review
- Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Frontiers in genetics · 2013Review
- A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.Human molecular genetics · 2011Article
- Prefoldin 5 is required for normal sensory and neuronal development in a murine model.The Journal of biological chemistry · 2011Article
- A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment.Nature protocols · 2010Article
- Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Genes, brain, and behavior · 2009Article
- Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.Human molecular genetics · 2009Article
- The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Neurobehavioral mutants identified in an ENU-mutagenesis project.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
- Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Review
- Impaired firing and cell-specific compensation in neurons lacking nav1.6 sodium channels.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2006Article
- Inherited disorders of voltage-gated sodium channels.The Journal of clinical investigation · 2005Review
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4 authors at 2 institutions in 1 country.
Funding
Abstract
The goal of The Jackson Laboratory Neuroscience Mutagenesis Facility is to generate mouse models of human neurological disease. We describe three new models obtained from a three-generation screen for recessive mutations. Homozygous mutant mice from lines nmf2 and nmf5 exhibit hind limb paralysis and juvenile lethality. Homozygous nmf58 mice exhibit a less severe movement disorder that includes sustained dystonic postures. The mutations were mapped to the distal region of mouse Chromosome (Chr) 15. Failure to complement a mutant allele of a positional candidate gene, Scn8a, demonstrated that the mutations are new alleles of Scn8a. Missense mutations of evolutionarily conserved residues of the sodium channel were identified in the three lines, with the predicted amino acid substitutions N1370T, I1392F, and L1404H. These residues are located within the pore loop of domain 3 of sodium channel Na(v)1.6. The lethal phenotypes suggest that the new alleles encode proteins with partial or complete loss of function. Several human disorders are caused by mutation in the pore loop of domain 3 of paralogous sodium channel genes. Line nmf5 contains a second, independent mutation in the rd13 locus that causes a reduction in cell number in the outer nuclear layer of the retina. rd13 was mapped to the distal 4 Mb of Chr 15. No coding or splice site mutations were detected in Pde1b, a candidate gene for rd13. The generation of three independent Scn8a mutations among 1100 tested G3 families demonstrates that the Scn8a locus is highly susceptible to ENU mutagenesis. The new alleles of Scn8a will be valuable for analysis of sodium channel physiology and disease.
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