WormBase Tree Display for Variation: WBVar00088818

WBVar00088818 Evidence: Paper_evidence: WBPaper00029143
    Person_evidence: WBPerson2171
  Name: Public_name: md290
    Other_name: F31E8.2a.1:c.215-118_*249del
    HGVSg: CHROMOSOME_II:g.6812965_6816228del
  Sequence_details: SMap: S_parent: Sequence: F31E8
    Flanking_sequences: ttatagatttcaattaaatagtaaacaaaa aatctctctttgttttcactcttccaacat
    Mapping_target: F31E8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027316
      WBStrain00029037
      WBStrain00033380
      WBStrain00033402
      WBStrain00033407
      WBStrain00033413
    Laboratory: RM
    Status: Live
  Affects: Gene: WBGene00004921
    Transcript: F31E8.2b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-7/7
        Exon_number: 3-8/8
      F31E8.2a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F31E8.2a.1:c.215-118_*249del
        cDNA_position: ?-1580
        Intron_number: 3-8/9
        Exon_number: 4-10/10
    Interactor: WBInteraction000500595
      WBInteraction000500609
      WBInteraction000500615
      WBInteraction000525112
      WBInteraction000525113
  Genetics: Interpolated_map_position: II 0.115802
  Description: Phenotype: WBPhenotype:0000039 Paper_evidence: WBPaper00048926
        Curator_confirmed: WBPerson11689
        Remark: resistant to lifespan extension by serotonin antagonists (mianserin, etc) Paper_evidence: WBPaper00048926
            Curator_confirmed: WBPerson11689
        Affected_by: Molecule: WBMol:00003509 Paper_evidence: WBPaper00048926
              Curator_confirmed: WBPerson11689
      WBPhenotype:0000142 Paper_evidence: WBPaper00048926
        Curator_confirmed: WBPerson11689
        Remark: resistant to induction of stress resistance by serotonin antagonists (mianserin, etc) Paper_evidence: WBPaper00048926
            Curator_confirmed: WBPerson11689
        Affected_by: Molecule: WBMol:00003509 Paper_evidence: WBPaper00048926
              Curator_confirmed: WBPerson11689
      WBPhenotype:0000643 Person_evidence: WBPerson2171
        Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson2171
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson2171
          Curator_confirmed: WBPerson712
      WBPhenotype:0000654 Paper_evidence: WBPaper00065295
        Curator_confirmed: WBPerson2633
      WBPhenotype:0001316 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: GABA and ACh evoked post-synaptic currents were largely reduced, even during repeated photostimulation. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: zxIs6, zxIs3 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
      WBPhenotype:0001514 Paper_evidence: WBPaper00002316
          WBPaper00065295
        Curator_confirmed: WBPerson128
          WBPerson2633
        Remark: defective synaptic vesicle endocytosis Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
        Recessive: Paper_evidence: WBPaper00002316
          Curator_confirmed: WBPerson128
      WBPhenotype:0002382 Paper_evidence: WBPaper00048427
        Curator_confirmed: WBPerson11689
        Phenotype_assay: Genotype: dvIs19 [Pgst-4::GFP::NLS] Paper_evidence: WBPaper00048427
              Curator_confirmed: WBPerson11689
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00032190
        Curator_confirmed: WBPerson712
        Remark: Expression of ChR2-YFP in GABAergic or cholinergic neurons was not affected. Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032190
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: zxIs3, zxIs6 Paper_evidence: WBPaper00032190
              Curator_confirmed: WBPerson712
      WBPhenotype:0001684 Paper_evidence: WBPaper00002316
        Curator_confirmed: WBPerson128
        Remark: synaptic vesicle biogenesis unaffected Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
          synaptic vesicle transport unaffected Paper_evidence: WBPaper00002316
            Curator_confirmed: WBPerson128
  Reference: WBPaper00002316
    WBPaper00019253
    WBPaper00032190
    WBPaper00029143
    WBPaper00026101
    WBPaper00048427
    WBPaper00048926
    WBPaper00065295
  Remark: Breakpoints have a slight ambiguity Person_evidence: WBPerson508
  Method: Deletion_allele