WormBase Tree Display for Variation: WBVar00146319

WBVar00146319 Name: Public_name: gm39
    Other_name: CE00205:p.Gly119Arg
      F54G8.3.1:c.355G>C
    HGVSg: CHROMOSOME_III:g.9172117C>G
  Sequence_details: SMap: S_parent: Sequence: F54G8
    Flanking_sequences: gaaacacgtggcagaacggtgcatccattg gaaagaatgatcagttgttggcctcaacga
    Mapping_target: F54G8
    Type_of_mutation: Substitution: g m Paper_evidence: WBPaper00002850
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028732
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00002081
    Transcript: F54G8.3.1 (12)
  Genetics: Interpolated_map_position: III 0.282128
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals showed a strong response to aldicarb than ina-1(gm144) animals, in addition to being hypersensitive compared to wild-type animals. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: 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:0000104 Paper_evidence: WBPaper00035117
        Curator_confirmed: WBPerson2021
        Remark: ina-1(gm39) mutant ACs had significant reductions in the polarized distribution and membrane localization of UNC-40 and other invasive membrane components Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000120 Paper_evidence: WBPaper00035117
        Curator_confirmed: WBPerson2021
        Remark: There was a greater than four-fold loss in the total volume and amount of the dense F-actin network in ina-1(gm39) mutants Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
      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
        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).This response was also stronger than that observed for ina-1(gm144) animals. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000977 Paper_evidence: WBPaper00032026
        Curator_confirmed: WBPerson2021
        Remark: At the L4 stage, ina-1 mutant gonads were clearly ruptured, and the germ cells clustered around the developing vulva Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005785 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001652 Paper_evidence: WBPaper00035117
        Curator_confirmed: WBPerson2021
        Remark: ina-1(gm39) mutants had a significant invasion defect, with 50% of ACs showing a lack of invasion at the P6.p four-cell stage, and 22% failing to invade by the P6.p eight-cell stage Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035117
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001911 Paper_evidence: WBPaper00055000
          WBPaper00050116
        Curator_confirmed: WBPerson1068
        EQ_annotations: GO_term: GO:0031103 PATO:0001511 Paper_evidence: WBPaper00050116
                Curator_confirmed: WBPerson1068
      WBPhenotype:0002066 Paper_evidence: WBPaper00038447
        Curator_confirmed: WBPerson712
        Remark: Animals harbouring a hypomorphic mutation in the integrin alpha-subunit, ina-1(gm39), had a weakly penetrant basement membrane gap positioning defect, with 13% of observed gaps showing an overexpanded boundary at the mid-L4 stage. Paper_evidence: WBPaper00038447
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000220 Paper_evidence: WBPaper00038447
        Curator_confirmed: WBPerson712
        Remark: Animals did not have alterations in vulval fate specification. Paper_evidence: WBPaper00038447
            Curator_confirmed: WBPerson712
      WBPhenotype:0000241 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: No accumulation of dead cell corpses Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:162
      DOID:1826
    Models_disease_in_annotation: WBDOannot00000552
      WBDOannot00001338
  Reference: WBPaper00015090
    WBPaper00038447
    WBPaper00004897
    WBPaper00035198
    WBPaper00032026
    WBPaper00035117
    WBPaper00050116
    WBPaper00055000
  Method: Substitution_allele