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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcna1tm1Jmay mutation (0 available); any Kcna1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• heterozygotes display no obvious attacks of ataxia induced by handling
• under control conditions, heterozygotes display no significant deficits in motor coordination in the accelerating rotarod task over ten successive trials
• heterozygous rotarod performance is unaffected by saline injection, exercise alone, or injection with the beta-adrenergic agonist isoproterenol (ISO) in the absence of exercise
• under control conditions, heterozygotes and wild-type mice exhibit the same number of hindfoot missteps while walking across the balance beam
• injection of ISO (10 mg/kg) followed by a 20 min period of exercise on the treadmill significantly reduces the latency of heterozygotes to fall from the accelerating rotarod by ~15 sec, whereas wild-type mice remain unaffected
• a higher dose of ISO (20 mg/kg) followed exercise reduces the latency of heterozygotes to fall to a similar degree, whereas wild-type mice are only moderately affected
• injection of ISO (10 mg/kg) followed by exercise significantly increases the number of hindfoot missteps on the balance beam in heterozygotes, but has little effect on wild-type littermates
• injection of acetazolamide (AZT), a carbonic anhydrase inhibitor, at 10 min prior to ISO injection (20 mg/kg) followed by exercise abolishes the reduction in latency to fall from the accelerating rotarod in heterozygous mice
• similalry, ATZ significantly decreases the number of hindfoot missteps on the balance beam, induced by ISO and exercise in heterozygous mice

nervous system
• in electrophysiological recordings from cerebellar Purkinje cells, heterozygotes display increased frequency and amplitude of spontaneous GABAergic inhibitory postsynaptic currents (IPSCs) relative to wild-type littermates
• however, no significant differences are observed in the amplitude or frequency of miniature IPSCs and the basket cell firing frequency relative to wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
episodic ataxia type 1 DOID:0050989 OMIM:160120

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory