WormBase Tree Display for Variation: WBVar00144145

WBVar00144145 Name: Public_name: e1605
    Other_name: CE24843:p.His192Tyr
      C44B11.3.1:c.574C>T
    HGVSg: CHROMOSOME_III:g.3134778G>A
  Sequence_details: SMap: S_parent: Sequence: C44B11
    Flanking_sequences: gtagagccatataactcgattttgaccacc ataccactttggagcactcggattgctcat
    Mapping_target: C44B11
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00034736
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004467
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003175
    Transcript: C44B11.3.1 (11)
    Interactor: WBInteraction000501195
      WBInteraction000501196
      WBInteraction000501197
      WBInteraction000501198
  Genetics: Interpolated_map_position: III -7.50415
    Mapping_data: In_2_point: 496
        1607
        4698
      In_multi_point: 425
        857
        1626
        1627
        1879
        2039
        2439
      In_pos_neg_data: 6855
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00001125
        Curator_confirmed: WBPerson712
      WBPhenotype:0000456 Paper_evidence: WBPaper00000502
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Stronger Mec than e1607. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
          touch insensitive Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Branch defects scored in PLM neuron. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
        Penetrance: Incomplete: Paper_evidence: WBPaper00045955
              Curator_confirmed: WBPerson557
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: lethargic Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0004029 Paper_evidence: WBPaper00064660
        Curator_confirmed: WBPerson51549
    Phenotype_not_observed: WBPhenotype:0000962 Paper_evidence: WBPaper00038206
        Curator_confirmed: WBPerson712
        Remark: Animals did not exhibit reduced fluorescence in GFP-expressing touch receptor neurons (TRNs). Paper_evidence: WBPaper00038206
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: uIs22(Pmec-3::GFP) Paper_evidence: WBPaper00038206
              Curator_confirmed: WBPerson712
      WBPhenotype:0001676 Paper_evidence: WBPaper00001125
        Curator_confirmed: WBPerson712
        Remark: Touch cell processes have normal numbers of large diameter microtubules compared to processes in control animals. Paper_evidence: WBPaper00001125
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038206
    WBPaper00000502
    WBPaper00001125
    WBPaper00014763
    WBPaper00023028
    WBPaper00034736
    WBPaper00045955
    WBPaper00064660
  Method: Substitution_allele