Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:16502
  • Symbol:Kcnc1
  • Description:potassium voltage gated channel, Shaw-related subfamily, member 1
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Gene ID Entry Entry Name Protein Name Type Information
16502 P15388 KCNC1_MOUSE Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4) DISRUPTION PHENOTYPE Mutant mice are born at the expected Mendelian rate. They are viable and fertile, but have lower body weight than wild-type. They have normal spontaneous locomotor activity, but impaired motor skills (PubMed:9037088). Mice lacking both Kcnc3 and Kcnc1 are born at the expected Mendelian rate, but the pups do not thrive and all die about 26 days after birth when kept together with other littermates. Their failure to thrive may be due to motor problems; mutant pups survive when fed separately, but 45 days after birth their body weight is only 50 to 60 % of that of wild-type (PubMed:11517255). They appear uncoordinated and display severe ataxia, myoclonus and spontaneous whole-body muscle jerks, but display no obvious alterations in brain morphology (PubMed:11517255, PubMed:15217387, PubMed:16923152). Mutant mice are also much more sensitive to ethanol and fall sideways at ethanol concentrations that have no effect on wild-type mice (PubMed:11517255). They display increased locomotor and exploratory activity (PubMed:11517255, PubMed:15217387). Mice lacking Kcnc1 show reduced response to tremorogenic agent harmaline; mice lacking both Kcnc3 and Kcnc1 are resistant to the tremorogenic agent harmaline (PubMed:15217387). {ECO:0000269|PubMed:11517255, ECO:0000269|PubMed:15217387, ECO:0000269|PubMed:16923152}.