WormBase Tree Display for Variation: WBVar00249755

WBVar00249755 Name: Public_name: tm725
    Other_name: CE50552:p.Ile149LysfsTer4
      CE42665:p.Ile149LysfsTer4
      Y116A8C.36d.1:c.446_810del
      Y116A8C.36a.1:c.446_810del
    HGVSg: CHROMOSOME_IV:g.17120180_17121027del
  Sequence_details: SMap: S_parent: Sequence: Y116A8C
    Flanking_sequences: ccggaactccatctagcagacacaactcga aatacccctgaactcgaaccaggagcggag
    Mapping_target: Y116A8C
    Source_location: 7 CHROMOSOME_IV 17120179 17121028 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm725_external
      tm725_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 725
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00006405
    Transcript: Y116A8C.36b.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-30
        CDS_position: ?-30
        Protein_position: ?-10
        Exon_number: 1/6
      Y116A8C.36a.1 (11)
      Y116A8C.36e.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-30
        CDS_position: ?-30
        Protein_position: ?-10
        Exon_number: 1/6
      Y116A8C.36d.1 (11)
    Interactor: WBInteraction000538784
  Isolation: Mutagen: TMP/UV
  Genetics: Map: IV
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00031112
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: itsn-1(ok268) and itsn-1(tm725) worms were hypersensitive to aldicarb, in acute and chronic assays Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
          Comment from Dr. A. Salcini: aldicarb hypersensitive. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: ZR
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00031112
              Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson2021
                WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00031112
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000519 Paper_evidence: WBPaper00031546
        Curator_confirmed: WBPerson7761
        Remark: Null mutants are viable and display grossly normal locomotion and development. However, motor neurons in these mutants show a dramatic increase in large irregular vesicles and accumulate membrane-associated vesicles at putative endocytic hotspots, approximately 300 nm from the presynaptic density. Paper_evidence: WBPaper00031546
            Curator_confirmed: WBPerson7761
      WBPhenotype:0001323 Paper_evidence: WBPaper00031546
        Curator_confirmed: WBPerson7761
        Remark: Null mutants are viable and display grossly normal locomotion and development. However, motor neurons in these mutants show a dramatic increase in large irregular vesicles and accumulate membrane-associated vesicles at putative endocytic hotspots, approximately 300 nm from the presynaptic density. Paper_evidence: WBPaper00031546
            Curator_confirmed: WBPerson7761
        EQ_annotations: Anatomy_term: WBbt:0005409 PATO:0000460 Paper_evidence: WBPaper00031546
                Curator_confirmed: WBPerson7761
      WBPhenotype:0001671 Paper_evidence: WBPaper00031546
        Curator_confirmed: WBPerson7761
        Remark: Null mutants are viable and display grossly normal locomotion and development. However, motor neurons in these mutants show a dramatic increase in large irregular vesicles and accumulate membrane-associated vesicles at putative endocytic hotspots, approximately 300 nm from the presynaptic density. Paper_evidence: WBPaper00031546
            Curator_confirmed: WBPerson7761
        EQ_annotations: Anatomy_term: WBbt:0005409 PATO:0000460 Paper_evidence: WBPaper00031546
                Curator_confirmed: WBPerson7761
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00031112
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
          WBPerson2021
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
          itsn-1 mutants were viable Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000207 Paper_evidence: WBPaper00031112
        Curator_confirmed: WBPerson2021
        Remark: Behavioral tests, including pumping, defecation cycle, and locomotion, were unaltered, both at 15 and 25C Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000518 Paper_evidence: WBPaper00031546
        Curator_confirmed: WBPerson7761
        Remark: Null mutants are viable and display grossly normal locomotion and development. Paper_evidence: WBPaper00031546
            Curator_confirmed: WBPerson7761
      WBPhenotype:0000520 Paper_evidence: WBPaper00031112
        Curator_confirmed: WBPerson2021
        Remark: The itsn-1 mutants did not display any obvious morphological phenotype Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000634 Paper_evidence: WBPaper00031112
        Curator_confirmed: WBPerson2021
        Remark: Behavioral tests, including pumping, defecation cycle, and locomotion, were unaltered, both at 15 and 25C Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00031112
          WBPaper00031546
        Curator_confirmed: WBPerson2021
          WBPerson7761
        Remark: Behavioral tests, including pumping, defecation cycle, and locomotion, were unaltered, both at 15 and 25C Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
          Null mutants are viable and display grossly normal locomotion and development. Paper_evidence: WBPaper00031546
            Curator_confirmed: WBPerson7761
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00031112
        Curator_confirmed: WBPerson2021
        Remark: itsn-1 mutants are fertile Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C-25C Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000845 Paper_evidence: WBPaper00031112
        Curator_confirmed: WBPerson2021
        Remark: itsn-1(ok268) and itsn-1(tm725) displayed wild-type behavior in response to levamisole Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00031112
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00031112
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00031112
    WBPaper00031546
  Remark: 220089/220090-220937/220938 (848 bp deletion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele