WormBase Tree Display for Variation: WBVar00144146

WBVar00144146 Evidence: Paper_evidence: WBPaper00046013
  Name: Public_name: e1607
    Other_name: C44B11.3.1:c.430G>A
      CE24843:p.Gly144Ser
    HGVSg: CHROMOSOME_III:g.3134922C>T
  Sequence_details: SMap: S_parent: Sequence: C44B11
    Flanking_sequences: ggattcctagtgttccactctttcggagga gtactggatccggtttcacttctcttttga
    Mapping_target: C44B11
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00046013
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003175
    Transcript: C44B11.3.1 (11)
    Interactor: WBInteraction000504762
      WBInteraction000517361
  Genetics: Interpolated_map_position: III -7.50264
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00001125
          WBPaper00037771
        Curator_confirmed: WBPerson712
          WBPerson209
        Remark: e.g. Figure 5G Paper_evidence: WBPaper00037771
            Curator_confirmed: WBPerson209
      WBPhenotype:0000456 Paper_evidence: WBPaper00000502
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Weaker allele than e1605. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
          weaker allele than e1605 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000502
          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:0000905 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00035070
          Curator_confirmed: WBPerson712
      WBPhenotype:0000962 Paper_evidence: WBPaper00038206
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited 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 fewer or are missing large diameter microtubules compared to processes in control animals. Paper_evidence: WBPaper00001125
            Curator_confirmed: WBPerson712
      WBPhenotype:0001933 Paper_evidence: WBPaper00035070
        Curator_confirmed: WBPerson712
        Remark: The pattern of jsIs821[RAB-3::GFP] localization was disrupted; reduced or abolished and nearly indistinguishable from mec-7(u443) animals. Homozygous mec-12(e1607)animals had a Sam phenotype nearly indistinguishable from mec-7(u443) animals. However, the cell bodies in these mutants were often larger and more intensely fluorescent than those observed in mec-15 mutants. mec-12(e1607) heterozygous animals had Sam and cell-body defects. Paper_evidence: WBPaper00035070
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00035070
          Curator_confirmed: WBPerson712
  Reference: WBPaper00038206
    WBPaper00000502
    WBPaper00001125
    WBPaper00035070
    WBPaper00037771
    WBPaper00046013
    WBPaper00045955
  Method: Substitution_allele