
pmid: 9335342
The "housekeeping" sodium/hydrogen exchanger, NHE1, mediates the electroneutral 1:1 exchange of Na+ and H+ across the plasma membrane. NHE1 is ubiquitous and is studied extensively for regulation of pHi, cell volume, and response to growth factors. We describe a spontaneous mouse mutant, slow-wave epilepsy, (swe), with a neurological syndrome including ataxia and a unique epilepsy phenotype consisting of 3/sec absence and tonic-clonic seizures. swe was fine-mapped on Chromosome 4 and identified as a null allele of Nhe1. Mutants show selective neuronal death in the cerebellum and brainstem but otherwise are healthy. This first example of a disease-causing mutation in an Nhe gene provides a new tool for studying the delicate balance of neuroexcitability and cell survival within the CNS.
570, ph, 610, Genes-Recessive, Genes, Recessive, pp, Brain-Chemistry, Cell Line, Mice, Mice, Neurologic Mutants, Cerebellum: pa, Cerebellum, SUPPORT-U-S-GOVT-P-H-S, Animals, Point Mutation, Mice-Neurologic-Mutants: ge, Point-Mutation: ge, SUPPORT-NON-U-S-GOVT, Epilepsy: ge, Crosses, Genetic, Brain Chemistry, Cerebral Cortex, Organ-Specificity, ge, Epilepsy, Ion Transport, me, Biochemistry, Genetics and Molecular Biology(all), Mice-Inbred-C57BL, Sodium-Hydrogen-Antiporter: an, Chromosome Mapping, Crosses-Genetic, Electroencephalography, Cerebral-Cortex: pp, Cell-Line, Fibroblasts, Mice, Inbred C57BL, Phenotype, Organ Specificity, Chromosome-Mapping, RNA: an, RNA, Ataxia, Sodium: me, pa, Ion-Transport
570, ph, 610, Genes-Recessive, Genes, Recessive, pp, Brain-Chemistry, Cell Line, Mice, Mice, Neurologic Mutants, Cerebellum: pa, Cerebellum, SUPPORT-U-S-GOVT-P-H-S, Animals, Point Mutation, Mice-Neurologic-Mutants: ge, Point-Mutation: ge, SUPPORT-NON-U-S-GOVT, Epilepsy: ge, Crosses, Genetic, Brain Chemistry, Cerebral Cortex, Organ-Specificity, ge, Epilepsy, Ion Transport, me, Biochemistry, Genetics and Molecular Biology(all), Mice-Inbred-C57BL, Sodium-Hydrogen-Antiporter: an, Chromosome Mapping, Crosses-Genetic, Electroencephalography, Cerebral-Cortex: pp, Cell-Line, Fibroblasts, Mice, Inbred C57BL, Phenotype, Organ Specificity, Chromosome-Mapping, RNA: an, RNA, Ataxia, Sodium: me, pa, Ion-Transport
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