WormBase Tree Display for Variation: WBVar00093292

WBVar00093292 Name: Public_name: ok2109
    HGVSg: CHROMOSOME_IV:g.7983676_7985652delinsTTTTTAAAA
  Sequence_details: SMap: S_parent: Sequence: F57H12
    Flanking_sequences: tggtacccatctctctctctctctccgtcc aatttatttttaaaaaattatattcggacc
    Mapping_target: F57H12
    Type_of_mutation: Insertion: TTTTTAAAA
      Deletion
    PCR_product: ok2109_external
      ok2109_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00032389
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00003178
      WBGene00000183
    Transcript: F57H12.1.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: 764-?
        Exon_number: 7/7
      F57H12.7b.1 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Intron_number: 1-2/2
        Exon_number: 1-3/3
      F57H12.7a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-5/6
        Exon_number: 3-7/7
    Interactor: WBInteraction000521007
  Isolation: Mutagen: EMS
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00037771
        Curator_confirmed: WBPerson209
        Remark: e.g. Figure 5G Paper_evidence: WBPaper00037771
            Curator_confirmed: WBPerson209
      WBPhenotype:0001221 Paper_evidence: WBPaper00037771
        Curator_confirmed: WBPerson209
        Remark: Figure 5F Paper_evidence: WBPaper00037771
            Curator_confirmed: WBPerson209
      WBPhenotype:0001224 Paper_evidence: WBPaper00044649
        Curator_confirmed: WBPerson9270
        Remark: Outgrowth of ALM posterior neurite; outgrowth of PLM posterior neurite (Figure S1D,E) Paper_evidence: WBPaper00044649
            Curator_confirmed: WBPerson9270
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
            WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
          GO_term: GO:0007409 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
      WBPhenotype:0002364 Paper_evidence: WBPaper00044649
        Curator_confirmed: WBPerson9270
        Remark: Spontaneous axon degeneration in adult animals, predominantly affecting PLM, but also ALM and AVM to a lessor degree (Figure 1C) Paper_evidence: WBPaper00044649
            Curator_confirmed: WBPerson9270
        EQ_annotations: Anatomy_term: WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
            WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
            WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00044649
                Curator_confirmed: WBPerson9270
    Phenotype_not_observed: WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Animals did not have PLM branch defects. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
  Disease_info: Models_disease: DOID:1289
    Models_disease_in_annotation: WBDOannot00000611
  Reference: WBPaper00037771
    WBPaper00044649
    WBPaper00045955
    WBPaper00065849
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele