WormBase Tree Display for Variation: WBVar00242688

WBVar00242688 Evidence: Paper_evidence: WBPaper00002030
  Name: Public_name: sc63
    Other_name: F23H12.4a.1:c.680G>A
      CE46560:p.Gly161Glu
      F23H12.4b.1:c.482G>A
      CE05707:p.Gly227Glu
    HGVSg: CHROMOSOME_V:g.12353802G>A
  Sequence_details: SMap: S_parent: Sequence: F23H12
    Flanking_sequences: caggagcaccaggagagccaggagactctg accaccaggaccaccaggaccaccaggagca
    Mapping_target: F23H12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002030
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00003796
      WBStrain00005507
      WBStrain00026576
      WBStrain00027000
    Laboratory: BE
    Status: Live
  Affects: Gene: WBGene00005018
    Transcript: F23H12.4a.1 (12)
      F23H12.4b.1 (12)
    Interactor (19)
  Genetics: Interpolated_map_position: V 4.00857
    Mapping_data: In_2_point: 2632
        6092
        6093
        6094
      In_multi_point (23)
      In_pos_neg_data: 1755
        4300
        6870
  Description: Phenotype: WBPhenotype:0000022 Paper_evidence: WBPaper00000906
        Curator_confirmed: WBPerson712
        Remark: cs long Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 16 Paper_evidence: WBPaper00000906
              Curator_confirmed: WBPerson712
      WBPhenotype:0000073 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: high penetrance deformed tail at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000501 Paper_evidence: WBPaper00000465
          WBPaper00000906
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Strong roller only as heterozygote,not homozygote, adult at 25C. Homozygotes only are weak/mild rollers at 16C. Paper_evidence: WBPaper00000465
            Curator_confirmed: WBPerson712
          ts left roller as heterozygote. Non ts left roller as transheterozygote with e42 and sc8 left roller transheterozygote phenotype stronger at 20C than 25C. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
          heterozygotes sc63/+ are non-dumpy left-handed roller in adult Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00000465
            WBPaper00000906
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000465
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000465
                WBPaper00000906
              Curator_confirmed: WBPerson712
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
          Cold_sensitive: Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 16C, 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000465
          WBPaper00000906
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: Temperature sensitive dumpy. Strong dumpy in L1, L2 and Dauer. Weak/mild dumpy at other stages. Paper_evidence: WBPaper00000465
            Curator_confirmed: WBPerson712
          ts strong dumpy homozygote and transheterozygote with sqt-3(e24) at 25C. Weak dumpy as transheterozyogte with e24 at 20C. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
          homozygotes at 25C are non-roller dumpy, at 15C slightly dumpy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy", temperature sensitive (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Recessive: Paper_evidence: WBPaper00000465
          Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000002 PATO:0000460 Paper_evidence: WBPaper00000465
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000465
                WBPaper00000906
              Curator_confirmed: WBPerson712
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
          Cold_sensitive: Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 16C, 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
            25, 15 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
          Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000648 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Mating not successful(ME0) at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched ala" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001515 Paper_evidence: WBPaper00000465
        Curator_confirmed: WBPerson712
        Remark: Struts are absent. Paper_evidence: WBPaper00000465
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000465
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000465
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
      WBPhenotype:0001516 Paper_evidence: WBPaper00000465
        Curator_confirmed: WBPerson712
        Remark: Alae make 1/2 turn along the length of the heterozygote animal only. Homozygote animals do not have any helical twists. Paper_evidence: WBPaper00000465
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00000465
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000465
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
      WBPhenotype:0001517 Paper_evidence: WBPaper00000465
          WBPaper00005747
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: Annulae are severely deranged. Paper_evidence: WBPaper00000465
            Curator_confirmed: WBPerson712
          Authors report "severe disruption" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Recessive: Paper_evidence: WBPaper00000465
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000465
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
          Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: heterozygotes sc63/+ are non-dumpy left-handed roller in adult Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000645 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: homozygotes at 25C are non-roller dumpy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000886 Paper_evidence: WBPaper00000906
        Curator_confirmed: WBPerson712
        Remark: WT as transheterozygote with sc8 at 25C but not at 20C. Paper_evidence: WBPaper00000906
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000906
              Curator_confirmed: WBPerson712
      WBPhenotype:0001412 Paper_evidence: WBPaper00000465
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000465
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00000465
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001687 Paper_evidence: WBPaper00001280
        Curator_confirmed: WBPerson712
        Remark: Animals did not show any level of immunofluorescence significantly higher than wild-type controls. Paper_evidence: WBPaper00001280
            Curator_confirmed: WBPerson712
  Reference: WBPaper00001328
    WBPaper00004883
    WBPaper00021117
    WBPaper00005747
    WBPaper00000465
    WBPaper00013885
    WBPaper00001280
    WBPaper00000906
  Method: Substitution_allele