WormBase Tree Display for Variation: WBVar00087947

WBVar00087947 Evidence: Paper_evidence: WBPaper00005122
  Name: Public_name: hy21
    Other_name: C26D10.5a.1:c.548C>T
      CE30881:p.Pro183Leu
      CE03028:p.Pro183Leu
      C26D10.5b.1:c.548C>T
    HGVSg: CHROMOSOME_II:g.8347416C>T
  Sequence_details: SMap: S_parent: Sequence: C26D10
    Flanking_sequences: caccaatcgggtgcagtgaagacgacatcc caagctttgctgtgacgttcgattcaagcc
    Mapping_target: C26D10
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00003873
      WBStrain00003874
      WBStrain00003876
      WBStrain00003878
      WBStrain00003882
    Laboratory: BP
    Status: Live
  Affects: Gene: WBGene00001159
    Transcript: C26D10.5a.1 (12)
      C26D10.5b.1 (12)
  Genetics: Interpolated_map_position: II 0.763864
    Mapping_data: In_multi_point: 4274
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1(hy21) worms at 25C are egg-laying defective Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000038 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Some eff-1(hy21) worms at 25C explode in the vulva region Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 18 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000070 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Patterning of the rays was abnormal and the tip had a spike reminiscent of the hermaphrodite leptoderan pointed tail Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000073 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000135 Paper_evidence: WBPaper00031666
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited high levels of pnlp-29::GFP expression, which was often most intense in the abnormal nonfused hpy-7 cells. Paper_evidence: WBPaper00031666
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: frIs7 Paper_evidence: WBPaper00031666
              Curator_confirmed: WBPerson712
      WBPhenotype:0000165 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Most epidermal cells derived the ventral P cells failed to fuse to hyp7. All 25 fusion events involved in vulva development are blocked Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006772 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBbt:0006773 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBbt:0006777 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000166 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Most epidermal cells derived from lateral seam failed to fuse to hyp7 Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000229 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Some eff-1(hy21) mutants at 25C are small Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000314 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Some animals have a scrawny body morphology at 25C Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000350 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Hermaphrodites displayed abnormalities in formation of the tail spike Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000583 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1(hy21) mutants at 25C are dumpy Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1(hy21) mutants at 25C are Unc Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000697 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1(hy21) worms at 25C are Pvl Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 46 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000700 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Few eff-1(hy21) worms at 25C are Muv Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Low: 2 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000702 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1(hy21) mutant embryos fail in all epidermal cell fusions Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000843 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Males are unable to mate efficiently Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
  Reference (14)
  Method: Substitution_allele