WormBase Tree Display for Variation: WBVar00143186

WBVar00143186 Evidence: Person_evidence: WBPerson39
  Name: Public_name: e407
    Other_name (21)
    HGVSg: CHROMOSOME_III:g.10524298C>T
  Sequence_details: SMap: S_parent: Sequence: T21C12
    Flanking_sequences: atggacctgaagctgttcccaatggactct aacactgtaaactggaaattgaaagctgta
    Mapping_target: T21C12
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003576
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (19)
    Component_of_genotype: WBGenotype00000119
    Laboratory: CB
      KP
    Status: Live
  Affects: Gene: WBGene00006784
    Transcript (11)
    Interactor: WBInteraction000501251
      WBInteraction000501252
  Genetics: Interpolated_map_position: III 3.30012
  Description: Phenotype: WBPhenotype:0000010 Paper_evidence: WBPaper00036766
        Curator_confirmed: WBPerson712
        Remark: unc-25 mutants were hypersensitive to fluoxetine in the paralysis assay. Paper_evidence: WBPaper00036766
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00005058 Paper_evidence: WBPaper00036766
              Curator_confirmed: WBPerson712
      WBPhenotype:0000153 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Animals showed shortening to ~85% of original body length upon photoactivation of ChR2-YFP. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: ChR2-YFP was activated in animals swimming in liquid, or on solid substrates, by applying 450-490 nm light. The chromophore essential fro ChR2 function was supplied by growing transgenic animals on medium containing all-trans retinal. Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
          Genotype: zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
      WBPhenotype:0000273 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit reduced thrashing compared to wild type animals. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
      WBPhenotype:0000563 Paper_evidence: WBPaper00003576
        Person_evidence: WBPerson39
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Paper_evidence: WBPaper00003576
              Person_evidence: WBPerson39
              Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00003576
          Person_evidence: WBPerson39
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Paper_evidence: WBPaper00003576
            Person_evidence: WBPerson39
            Curator_confirmed: WBPerson48
      WBPhenotype:0000631 Paper_evidence: WBPaper00055158
        Curator_confirmed: WBPerson8908
        Remark: Pentylenetetrazol-induced convulsions seen with these alleles Paper_evidence: WBPaper00055158
            Curator_confirmed: WBPerson8908
        Penetrance: Incomplete: Paper_evidence: WBPaper00055158
              Curator_confirmed: WBPerson8908
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00055158
              Curator_confirmed: WBPerson8908
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00055158
              Curator_confirmed: WBPerson8908
      WBPhenotype:0001316 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Light-evoked currents (photo-ePSCs) were abolished. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: ChR2-YFP was activated in animals swimming in liquid, or on solid substrates, by applying 450-490 nm light. The chromophore essential fro ChR2 function was supplied by growing transgenic animals on medium containing all-trans retinal. Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
          Genotype: zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
      WBPhenotype:0001701 Paper_evidence: WBPaper00060194
        Curator_confirmed: WBPerson8908
        Remark: Exhibits pentylenetetrazol-induced head bobbing convulsions Paper_evidence: WBPaper00060194
            Curator_confirmed: WBPerson8908
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00060194
              Curator_confirmed: WBPerson8908
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Expression of ChR2-YFP in cholinergic neurons was not affected. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
      WBPhenotype:0000567 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Dorsal coiling was not triggered in animals treated to photostimulation of ChR2-YFP in cholinergic neurons. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: ChR2-YFP was activated in animals swimming in liquid, or on solid substrates, by applying 450-490 nm light. The chromophore essential fro ChR2 function was supplied by growing transgenic animals on medium containing all-trans retinal. Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
          Genotype: zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00001202
      WBDOannot00001203
  Reference: WBPaper00035198
    WBPaper00036766
    WBPaper00032190
    WBPaper00003576
    WBPaper00055158
    WBPaper00061172
    WBPaper00060194
    WBPaper00064917
    WBPaper00065359
    WBPaper00066029
  Remark: affects all UNC-49B subunits
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele