WormBase Tree Display for Variation: WBVar00091740

WBVar00091740 Name: Public_name: ok449
    Other_name: F57C7.3b.1:c.153+113_349del
      F57C7.3a.1:c.153+113_352del
    HGVSg: CHROMOSOME_X:g.10592531_10593013del
  Sequence_details: SMap: S_parent: Sequence: F57C7
    Flanking_sequences: aaaagaaaaagccgacacaaaccgctgtag CATTTGCCGCGCTTCAGATTCGAGCCTGCT
    Mapping_target: F57C7
    Type_of_mutation: Deletion
    PCR_product: OK449_external
      OK449_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031428
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00004749
    Transcript: F57C7.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F57C7.3a.1:c.153+113_352del
        cDNA_position: ?-408
        CDS_position: ?-352
        Protein_position: ?-118
        Intron_number: 2-3/7
        Exon_number: 3-4/8
      F57C7.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F57C7.3b.1:c.153+113_349del
        cDNA_position: ?-405
        CDS_position: ?-349
        Protein_position: ?-117
        Intron_number: 2-3/7
        Exon_number: 3-4/8
    Interactor: WBInteraction000524031
      WBInteraction000524032
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4652
  Description: Phenotype: WBPhenotype:0000470 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: HSN neurons either failed to migrate at all or stopped prematurely before reaching their normal position near the vulva Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000632 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: Severe defasciculation defects Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000699 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: Abnormal vulval development Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001672 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: In both sdn-1 mutants, the circumferential outgrowth of commissures was impaired Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001761 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: Midline crossover defects of PVQL and PVQR, with either contralateral analog inappropriately crossing the midline Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oyIs14 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: The midline choice (where the axons turn at the midline either to the left or right) is affected. Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00026825
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000604 Paper_evidence: WBPaper00026825
        Curator_confirmed: WBPerson2021
        Remark: The nervous system is grossly intact in all mutants Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00026825
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: DiI staining Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
          Genotype: oyIs17, zdIs5, otIs39, evIs82b, rhIs4 Paper_evidence: WBPaper00026825
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00032446
    WBPaper00026825
    WBPaper00024413
    WBPaper00025474
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele