WormBase Tree Display for Variation: WBVar00090474

WBVar00090474 Evidence: Paper_evidence: WBPaper00003815
  Name: Public_name: n2433
    Other_name: C48D1.2b.1:c.430G>A
      CE44550:p.Gly144Ser
      CE29088:p.Gly360Ser
      C48D1.2a.1:c.1078G>A
    HGVSg: CHROMOSOME_IV:g.13200548C>T
  Sequence_details: SMap: S_parent: Sequence: C48D1
    Flanking_sequences: ccgaaaatcgtttttgtgcaggcttgtcga gcggttcgttttttattttaattttaatat
    Mapping_target: C48D1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003815
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027262
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00000417
    Transcript: C48D1.2a.1 (12)
      C48D1.2b.1 (12)
    Interactor: WBInteraction000002952
      WBInteraction000051723
      WBInteraction000571507
      WBInteraction000571509
      WBInteraction000571511
      WBInteraction000571521
      WBInteraction000571522
      WBInteraction000571523
      WBInteraction000571524
      WBInteraction000571562
  Genetics: Interpolated_map_position: IV 8.46467
  Description: Phenotype: WBPhenotype:0000182 Paper_evidence: WBPaper00038317
          WBPaper00041673
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: ~12 cells remained alive in the anterior pharynx of ced-3(lf)mutants. Paper_evidence: WBPaper00038317
            Curator_confirmed: WBPerson712
          "To determine the nature of HBx-induced cell death, we introduced the PhspHBx transgenes into animals defective in ced-3, which encodes a caspase essential for apoptosis (21), or animals defectivein mec-6, which is important for necrosis (22). A strong loss-of-function (lf) mutation in ced-3(n2433) or mec-6(e1342) partially suppressed embryonic lethality caused by HBx overexpression (Fig. 1B), indicating that both apoptotic and necrotic cell death contributes to lethality of HBx transgenic embryos." Paper_evidence: WBPaper00041673
            Curator_confirmed: WBPerson2987
          "Loss of egl-1, ced-3, or ced-4 partially suppressed HBx-induced cell death (from 50% to 22-26% PLM death; Fig. 2A), indicating that HBx induces cell death partly through the apoptotic pathway." Paper_evidence: WBPaper00041673
            Curator_confirmed: WBPerson2987
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00041673
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: [PhspHBx; Psur-5::SUR-5::GFP] Paper_evidence: WBPaper00041673
              Curator_confirmed: WBPerson2987
            smIs98 [Pmec-3::GFP; Pmec-7::HBx] Paper_evidence: WBPaper00041673
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000184 Paper_evidence: WBPaper00005978
        Curator_confirmed: WBPerson712
        Remark: This mutation blocks almost all cell deaths in C. elegans. Paper_evidence: WBPaper00005978
            Curator_confirmed: WBPerson712
      WBPhenotype:0001271 Paper_evidence: WBPaper00004574
        Curator_confirmed: WBPerson712
        Remark: ced-3 mutants are hypersusceptible to S. typhimurium-mediated killing. ced-3 mutants died much more quickly than wild-type worms when feeding on S. typhimurium, but died at the same rate as wild-type worms when feeding on E. coli. Paper_evidence: WBPaper00004574
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038317
    WBPaper00003815
    WBPaper00005978
    WBPaper00004574
    WBPaper00041673
  Method: Substitution_allele