WormBase Tree Display for Variation: WBVar00143389

WBVar00143389 Evidence: Person_evidence: WBPerson201
  Name: Public_name: e669
    Other_name (22)
    HGVSg: CHROMOSOME_II:g.14657911G>A
  Sequence_details: SMap: S_parent: Sequence: ZC101
    Flanking_sequences: atgtttctttcaattaattcaggtccacca agcacccagtgatcaccccacaaacacaga
    Mapping_target: ZC101
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson201
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004194
      WBStrain00008398
      WBStrain00030680
      WBStrain00034393
      WBStrain00034394
      WBStrain00034411
      WBStrain00034413
      WBStrain00034415
    Laboratory: CB
    Status: Live
  Linked_to: WBVar00143390
  Affects: Gene: WBGene00006787
    Transcript (13)
    Interactor: WBInteraction000518044
      WBInteraction000518055
      WBInteraction000518867
      WBInteraction000519034
      WBInteraction000519466
      WBInteraction000519467
      WBInteraction000538514
      WBInteraction000538523
  Genetics: Interpolated_map_position: II 23.3125
    Mapping_data: In_2_point: 771
        4502
      In_multi_point: 1552
  Description: Phenotype: WBPhenotype:0000006 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are partially egg-laying defective. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000164 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are thin. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000195 Paper_evidence: WBPaper00005809
        Curator_confirmed: WBPerson2987
        Remark: "Several previously described class I unc-52 alleles also showed significant increases in the frequency of DTC migration defects of weak unc-5 alleles. These include unc-52(e669), unc-52(e998), and unc-52(e1421) (Table 1)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
          "All class I unc-52 alleles (except e444) strongly enhanced the penetrance of DTC migration defects of a null allele of unc-5 (Table 1)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: unc-5(e152) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
            unc-5(e53) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000349 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are limp. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000553 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000643 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Larvae move well until late L4 stage. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
            WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000818 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000868 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are paralysed (except for head region). Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000060 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
  Reference (13)
  Method: Substitution_allele