Mine Disruption Phenotype

Gene Info

  • Species: Fly (Drosophila melanogaster)
  • GeneID: 39436
  • Symbol: Pmm2
  • Description: Phosphomannomutase type 2
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Gene ID Entry Entry Name Protein Name Type Information
39436 Q9VTZ6 PMM_DROME Phosphomannomutase (EC 5.4.2.8) (Phosphomannomutase 2) (Phosphomannomutase type 2) DISRUPTION PHENOTYPE RNAi-mediated whole-body knockdown is lethal at larval stage with severe developmental delays (PubMed:26940433). RNAi-mediated whole-body knockdown or combined neural and muscle knockdown, reduces N-linked protein glycosylation at the neuromuscular junction (NMJ) leading to NMJ synaptic overelaboration and decreased amplitude of evoked excitatory junction currents (EJCs) (PubMed:26940433). These structural and functional defects at the NMJ impair coordinated movement needed for viability (PubMed:26940433). Loss of N-linked protein glycosylation at the NMJ, reduces levels of synaptic Mmp2 and thereby the synaptic levels of wg and its coreceptor dlp leading to a down-regulation of the trans-synaptic pathway (PubMed:26940433). RNAi-mediated knockdown either in the neurons or in the muscles, also reduces glycosylation at the NMJ and synaptic overelaboration, however there is no decrease in the amplitude of evoked excitatory junction currents (EJCs) and flies die at the adult stage (PubMed:26940433). Adults display held-out wings and exhibit incoordination which impairs walking or flying (PubMed:26940433). RNAi-mediated knockdown in muscles impairs coordinated movement required for pharate adults to properly eclose, resulting in death (PubMed:26940433). {ECO:0000269|PubMed:26940433}.