WormBase Tree Display for Variation: WBVar00091484

WBVar00091484 Evidence: Person_evidence: WBPerson7982
  Name: Public_name: ok161
    HGVSg: CHROMOSOME_X:g.11306637_11307938del
  Sequence_details: SMap: S_parent: Sequence: F08G12
    Flanking_sequences: ttttgtgtgattttttgcaagctggcgtac cacctcacttttaactgttaatattttttc
    Mapping_target: F08G12
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004655
      WBStrain00004677
      WBStrain00004678
      WBStrain00040827
    Component_of_genotype: WBGenotype00000008
      WBGenotype00000020
    Laboratory: RB
    Person: WBPerson46
      WBPerson7982
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00006922
    Transcript: F08G12.4.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-3/4
        Exon_number: 1-3/5
    Interactor (16)
  Description: Phenotype (18)
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00031981
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Homozygous viable. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031981
            Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000497 Paper_evidence: WBPaper00036343
        Curator_confirmed: WBPerson2021
        Remark: No significant change in embryonic lethality in vhl-1(ok161) mutants compared to wild-type worms after IR Paper_evidence: WBPaper00036343
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000741 Paper_evidence: WBPaper00036343
        Curator_confirmed: WBPerson2021
        Remark: vhl-1(ok161) worms showed a normal cell cycle arrest upon IR, as assessed by the decrease in the number of proliferating cells in the stem cell compartment Paper_evidence: WBPaper00036343
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001256 Paper_evidence: WBPaper00036343
        Curator_confirmed: WBPerson2021
        Remark: vhl-1(ok161) worms showed normal HUS-1 foci formation in the mitotic germline zone post ionizing radiation treatment Paper_evidence: WBPaper00036343
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001838 Paper_evidence: WBPaper00040863
        Curator_confirmed: WBPerson2987
        Remark: vhl-1(ok161) mutant animals displayed reduced expression of Pftn-1::GFP in response to 0.1 millimolar 2-2' bipyridyl (BP), similar to wild type animals (Figure 5B). Paper_evidence: WBPaper00040863
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00005433 Paper_evidence: WBPaper00040863
              Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: wuIs177 [Pftn-1::GFP] Paper_evidence: WBPaper00040863
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001861 Paper_evidence: WBPaper00035435
        Curator_confirmed: WBPerson2021
        Remark: H2S exposure of vhl-1(ok161); nhr-57::gfp(iaIs07) worms results in hypodermal fluorescence similar to that seen in control animals Paper_evidence: WBPaper00035435
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00035435
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001990 Paper_evidence: WBPaper00046162
        Curator_confirmed: WBPerson2857
        Remark: animals develop the same number of polyglutamine aggregates as wild-type when exposed to environments with either 1000 ppm or 5000 ppm oxygen Paper_evidence: WBPaper00046162
            Curator_confirmed: WBPerson2857
  Disease_info: Models_disease: DOID:4467
      DOID:14175
    Models_disease_in_annotation: WBDOannot00000597
      WBDOannot00000598
      WBDOannot00000601
      WBDOannot00001276
  Reference: WBPaper00040550
    WBPaper00040863
    WBPaper00031981
    WBPaper00035435
    WBPaper00036343
    WBPaper00036195
    WBPaper00035580
    WBPaper00046162
    WBPaper00049131
    WBPaper00055561
  Remark: Last updated on 29 Nov 2002
    Generated by the C. elegans Gene Knockout Consortium
    Allele sequenced by AC Epstein Curator_confirmed: WBPerson2970
  Method: KO_consortium_allele