WormBase Tree Display for Variation: WBVar00091881

WBVar00091881 Name: Public_name: ok595
    Other_name: C34F6.4.1:c.350+11_764del
    HGVSg: CHROMOSOME_X:g.11205292_11206626del
  Sequence_details: SMap: S_parent: Sequence: C34F6
    Flanking_sequences: tttggtgggatctttttctttgtgtatcgt gaatattgaccgttgaaaatcgataaatgc
    Mapping_target: C34F6
    Type_of_mutation: Deletion
    PCR_product: OK595_external
      OK595_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029327
      WBStrain00031513
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00002029
    Transcript: C34F6.4.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C34F6.4.1:c.350+11_764del
        cDNA_position: ?-831
        CDS_position: ?-764
        Protein_position: ?-255
        Intron_number: 4-7/9
        Exon_number: 5-8/10
    Interactor: WBInteraction000524035
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4421
  Description: Phenotype: WBPhenotype:0000229 Paper_evidence: WBPaper00029002
        Curator_confirmed: WBPerson557
      WBPhenotype:0000384 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Defects in HSN axon morphology such that one HSN axon inappropriately projects contralaterally Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Loss of hst-2 disrupts HSN cell migration Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000541 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Roughly half of the commissures that make an incorrect midline choice reach the dorsal nerve cord Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: 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
      WBPhenotype:0000632 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Severe defasciculation defects Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: 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
      WBPhenotype:0001761 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Midline crossover defects of PVQL and PVQR as well as PVPL and PVPR axons, with either contralateral analog inappropriately crossing the midline Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0006832 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oyIs14, hdIs26 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00006471
          WBPaper00032413
        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
          Removal of 2O-sulfation results in mild defects in the sidedness of motor axon projections. These mild defects show cell-type specificity, with DA2, DB3, DB6, and DB7 being most affected by loss of 2O-sulfation Paper_evidence: WBPaper00032413
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
              WBPaper00032413
            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
            WBbt:0004869 PATO:0000460 Paper_evidence: WBPaper00032413
                Curator_confirmed: WBPerson2021
            WBbt:0004844 PATO:0000460 Paper_evidence: WBPaper00032413
                Curator_confirmed: WBPerson2021
            WBbt:0004841 PATO:0000460 Paper_evidence: WBPaper00032413
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000012 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Not daf-c Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000054 Paper_evidence: WBPaper00040941
        Curator_confirmed: WBPerson1705
      WBPhenotype:0000062 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Non-lethal Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000245 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: No defects in SM migration Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000604 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: The nervous system is grossly intact in all mutants Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term (13)
        Phenotype_assay: Treatment: DiI staining Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
          Genotype: oyIs17, otEx404, mgIs18, uIs25, otEx1043, zdIs5, otEx1082, otIs39, evIs82b, wdIs3 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Non-Unc Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Non-sterile Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00040941
    WBPaper00032413
    WBPaper00029002
    WBPaper00006471
    WBPaper00024916
    WBPaper00019290
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele