WormBase Tree Display for Variation: WBVar00146356

WBVar00146356 Evidence: Paper_evidence: WBPaper00002850
  Name: Public_name: gm144
    Other_name: CE00205:p.Pro1072Leu
      F54G8.3.1:c.3215C>T
    HGVSg: CHROMOSOME_III:g.9168714G>A
  Sequence_details (5)
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028742
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00002081
    Transcript: F54G8.3.1 (12)
    Interactor: WBInteraction000503959
  Genetics: Interpolated_map_position: III 0.270678
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 30 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000016 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Overexpression of ina-1 in GABAergic neurons significantly reduced this aldicarb hypersensitivity. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
      WBPhenotype:0000059 Paper_evidence: WBPaper00032026
        Curator_confirmed: WBPerson2021
        Remark: ina-1mutants arrest as L1 larvae Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000230 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 18 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000273 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit reduced thrashing compared to wild type animals. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
      WBPhenotype:0000406 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 30 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000571 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Synaptic vesicles are misaccumulated in GABAergic D-type motor neurons as assayed by gaps in the pattern of fluorescence of juIs1[Punc-25::SNB-1::GFP] labeled vesicles. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005190 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Incomplete: 83 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000977 Paper_evidence: WBPaper00032026
        Curator_confirmed: WBPerson2021
        Remark: Gonads of adult worms carrying the weaker ina-1 allele, gm144, had enlarged arms. No germ cell leakage Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005785 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001761 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Midline crossover defects of PVQL and PVQR axons, with either contralateral analog inappropriately crossing the midline Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oyIs14 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: The midline choice (where the axons turn at the midline either to the left or right) is affected. Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000104 Paper_evidence: WBPaper00035117
        Curator_confirmed: WBPerson2021
        Remark: The polarity of the invasive membrane components was normal in ina-1(gm144) mutants Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000163 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      WBPhenotype:0000241 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: No accumulation of dead cell corpses Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000700 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      WBPhenotype:0001652 Paper_evidence: WBPaper00035117
        Curator_confirmed: WBPerson2021
        Remark: ina-1(gm144) animals had normal AC invasion Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00000556
  Reference: WBPaper00002978
    WBPaper00004897
    WBPaper00035198
    WBPaper00032026
    WBPaper00035117
    WBPaper00006471
  Method: Substitution_allele