Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 57340
  • Symbol: Jph3
  • Description: junctophilin 3
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Gene ID Entry Entry Name Protein Name Type Information
57340 Q9ET77 JPH3_MOUSE Junctophilin-3 (JP-3) (Junctophilin type 3) DISRUPTION PHENOTYPE Mice are viable and fertile, but have defects in balance/motor coordination tasks. Jph3 and Jph4 double knockout mice exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex. {ECO:0000269|PubMed:11906164, ECO:0000269|PubMed:16809425, ECO:0000269|PubMed:17904530}.