WormBase Tree Display for Variation: WBVar00088337

WBVar00088337 Evidence: Paper_evidence: WBPaper00003386
  Name: Public_name: ku207
    Other_name (17)
    HGVSg: CHROMOSOME_X:g.5672859G>A
  Sequence_details: SMap: S_parent: Sequence: W01C8
    Flanking_sequences: tcaccaaaccatatcaaaagaccaatgaac cattcatggtatgggctcgtgacgagagac
    Mapping_target: W01C8
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003386
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MH
    Status: Live
  Affects: Gene: WBGene00001182
    Transcript (11)
  Genetics: Interpolated_map_position: X -4.40667
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 96% (n=75) 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
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: Average brood size 5413 s.d. (n=48). 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
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000283 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 85% (n=82) 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
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 1% (n=75) 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
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0000690 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 12% (n=129) gonad arms followed and abnormal migration path as viewed under Nomarski optics, compared to N2 (3%(n=108)). 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: 13% (n=82) of animals exhibit grossly abnormal vulva morphology as compared to N2 (3%(n=32)). Only 1% of animals have normal L4 vulva morphology. 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=75) 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
        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:0001508 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: 26 of 33 L4 and young adult animals displayed a distinct pattern of cdh::gfp fluorescence indicative of the lack of fusion between the AC and utse cells. WT worms (n=30) display a diffuse staining pattern as a result of normal AC-utse cell fusion. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004522 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
            WBbt:0006789 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000036 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001414 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
  Reference: WBPaper00003386
    WBPaper00019788
    WBPaper00026078
  Method: Substitution_allele