WormBase Tree Display for Variation: WBVar00088333

WBVar00088333 Evidence: Paper_evidence: WBPaper00003386
  Name: Public_name: ku194
    Other_name (17)
    HGVSg: CHROMOSOME_X:g.5672291C>T
  Sequence_details: SMap: S_parent: Sequence: W01C8
    Flanking_sequences: ctcctgaggcagcacgaactgatgcagcat agcagcaacaaatgataattgctaacatgt
    Mapping_target: W01C8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003386
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin (4)
  Affects: Gene: WBGene00001182
    Transcript (11)
    Interactor: WBInteraction000501481
      WBInteraction000501482
      WBInteraction000501869
      WBInteraction000520308
      WBInteraction000555306
  Genetics: Interpolated_map_position: X -4.407
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00003386
          WBPaper00006298
        Curator_confirmed: WBPerson712
        Remark: 96% (n=93) of animals are completely unable to lay eggs. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00003386
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                  WBPaper00006298
                Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: Average brood size 2811 s.d. (n=55). Brood size was assayed by counting all progeny that emerged from an Egl corpse. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000283 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 81% (n=53) of animals with normal vulval morphology exhibited an AC block, e.g. the AC nucleus had not migrated from the apex of the vulva. N2 exhibits 0% AC block (n-32). Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000464 Paper_evidence: WBPaper00042395
        Curator_confirmed: WBPerson1725
      WBPhenotype:0000688 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 4% (n=93) of animals produce no progeny. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00003386
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000690 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 13% (n=82) gonad arms followed and abnormal migration path as viewed under Nomarski optics, compared to N2 (3%(n=108)). Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000695 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 19% (n=53)of animals exhibit grossly abnormal vulva morphology as compared to N2 (3%(n=32)). Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
            WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 44% (n=183) of animals have a protruding vulva. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003386
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003386
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000746 Paper_evidence: WBPaper00006298
        Curator_confirmed: WBPerson712
        Remark: 22/24 pi cell daughters were observed dividing (2 animals scored). No pi cell daughters were observed to undergo divisions in N2 animals. Paper_evidence: WBPaper00006298
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007813 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
      WBPhenotype:0000825 Paper_evidence: WBPaper00006298
        Curator_confirmed: WBPerson712
        Remark: As assayed by extra cell divisions of pi daughter cells as well as by an increase in the average number of fluorescent uterine nuclei compared to egl-13(+) animals. Paper_evidence: WBPaper00006298
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007813 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: tyIs4[egl-13::GFP] Paper_evidence: WBPaper00006298
              Curator_confirmed: WBPerson712
      WBPhenotype:0001236 Paper_evidence: WBPaper00006298
        Curator_confirmed: WBPerson712
        Remark: The average number of fluorescent uterine nuclei was increased in comparison to egl-13(+) animals. Paper_evidence: WBPaper00006298
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007813 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kuIs29[egl-13::GFP] or tyIs4[egl-13::GFP] Paper_evidence: WBPaper00006298
              Curator_confirmed: WBPerson712
      WBPhenotype:0001278 Paper_evidence: WBPaper00006298
        Curator_confirmed: WBPerson712
        Remark: AC nucleus does not express kuIs29[egl-13::GFP]. Paper_evidence: WBPaper00006298
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004522 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00006298
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kuIs29[egl-13::GFP] or tyIs4[egl-13::GFP] Paper_evidence: WBPaper00006298
              Curator_confirmed: WBPerson712
      WBPhenotype:0001764 Paper_evidence: WBPaper00042395
        Curator_confirmed: WBPerson1725
    Phenotype_not_observed: WBPhenotype:0000197 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: pi cell precursors adopt a pi fate, as assayed by their division patterns (56/63 cells lineaged) and the expression of pi-cell specific markers lin-11::gfp and cog-2::gfp in ku194 animals. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007813 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0001414 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
  Reference: WBPaper00042395
    WBPaper00003386
    WBPaper00006298
  Method: Substitution_allele