WormBase Tree Display for Variation: WBVar00143671

WBVar00143671 Evidence: Person_evidence: WBPerson201
  Name: Public_name: e998
    Other_name (24)
    HGVSg: CHROMOSOME_II:g.14657379C>T
  Sequence_details: SMap: S_parent: Sequence: ZC101
    Flanking_sequences: CGGAAGAGGTCCATTTTCCTCTCGGAATCC CACCTGATGCGTGCCGGAGTGTCCGAGTGC
    Mapping_target: ZC101
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004221
      WBStrain00005866
    Laboratory: CB
      VC
    Analysis: Million_Mutation_Pilot_Project
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00006787
    Transcript (13)
    Interactor: WBInteraction000521944
      WBInteraction000538515
      WBInteraction000538524
  Isolation: Mutagen: EMS
  Genetics: Mapping_data: In_2_point: 934
  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:0000473 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Stronger phenotype than e444. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000553 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      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
    Phenotype_not_observed: WBPhenotype:0000060 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000643 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Larvae move well until early L4 stage. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0001767 Paper_evidence: WBPaper00032413
        Curator_confirmed: WBPerson2021
        Remark: No significant defects in embryonic DA/DB motor neuron left/right projection patterns (Figure S1A). Paper_evidence: WBPaper00032413
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00032413
    WBPaper00005809
    WBPaper00014939
    WBPaper00014555
    WBPaper00002086
    WBPaper00025869
    WBPaper00036200
  Remark: Allele identified through whole-genome sequencing by the Gene Knockout Consortium Paper_evidence: WBPaper00036200
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele