WormBase Tree Display for Variation: WBVar00143062

WBVar00143062 Evidence: Paper_evidence: WBPaper00002990
  Name: Public_name: e246
    Other_name: CE28035:p.Ala248Val
      F56A8.7b.1:c.743C>T
      CE16127:p.Ala248Val
      F56A8.7a.1:c.743C>T
      F56A8.7a.2:c.743C>T
    HGVSg: CHROMOSOME_III:g.13280608C>T
  Sequence_details: SMap: S_parent: Sequence: F56A8
    Flanking_sequences: tggagcacgcgaaagaatttgttgatcgag agtagctgatacgaagaaagccgttcaata
    Mapping_target: F56A8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002990
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004134
      WBStrain00004366
      WBStrain00007239
      WBStrain00030888
      WBStrain00057268
      WBStrain00057284
      WBStrain00057285
      WBStrain00057288
      WBStrain00057290
      WBStrain00057291
    Laboratory: CB
      NCA
    Status: Live
  Affects: Gene: WBGene00006798
    Transcript: F56A8.7b.1 (12)
      F56A8.7a.2 (12)
      F56A8.7a.1 (12)
    Interactor: WBInteraction000500603
      WBInteraction000503382
      WBInteraction000517393
      WBInteraction000518496
  Genetics: Interpolated_map_position: III 21.1995
    Mapping_data: In_2_point: 58
        69
        79
        481
        483
        488
        3718
        6054
        7011
      In_multi_point: 256
        375
        1659
        1716
        1756
        1865
        3247
        3262
        3265
        3266
      In_pos_neg_data: 356
        1601
        8143
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00006029
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Aldicarb resistance was most apparent at 15C but was almost completely rescued at 25C. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
          Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 15 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were monitored for paralysis over time in the presence of 1mM alicarb. Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
          Temperature: 15, 25 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
      WBPhenotype:0000507 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: elevated acetylcholine levels Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: sluggish Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001206 Paper_evidence: WBPaper00038487
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit severe movement defects preventing any observation of a plate tap response. Paper_evidence: WBPaper00038487
            Curator_confirmed: WBPerson712
      WBPhenotype:0001592 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: will move either forward or backward if prodded but almost immediately jams up Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000032 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: healthy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001616 Paper_evidence: WBPaper00024698
        Curator_confirmed: WBPerson712
        Remark: Trimethadione significantly extended life-span of mutant animals (N=245)(2 ind.exp.) as observed for WT. Paper_evidence: WBPaper00024698
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Lifespan analysis was performed on animals exposed to 4 mg/ml of the drug from fertilization until death. Animals were cultured on NGM plates containing the drug and seeded with OP50. Paper_evidence: WBPaper00024698
              Curator_confirmed: WBPerson712
          Temperature: 20C Paper_evidence: WBPaper00024698
              Curator_confirmed: WBPerson712
      WBPhenotype:0001617 Paper_evidence: WBPaper00024698
        Curator_confirmed: WBPerson712
        Remark: Ethosuximide extended life-span of mutant animals (N=160)(3 ind.exp.), although to a less extent than observed for WT. Paper_evidence: WBPaper00024698
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Lifespan analysis was performed on animals exposed to 2 mg/ml of the drug from fertilization until death. Animals were cultured on NGM plates containing the drug and seeded with OP50. Paper_evidence: WBPaper00024698
              Curator_confirmed: WBPerson712
          Temperature: 20C Paper_evidence: WBPaper00024698
              Curator_confirmed: WBPerson712
  Reference (25)
  Method: Substitution_allele