WormBase Tree Display for Variation: WBVar00087752

WBVar00087752 Evidence: Paper_evidence: WBPaper00002791
  Name: Public_name: hc24
    Other_name: CE42470:p.Leu1682Phe
      F43G9.6b.1:c.5044C>T
      CE10364:p.Leu1809Phe
      F43G9.6a.1:c.5425C>T
    HGVSg: CHROMOSOME_I:g.8623979G>A
  Sequence_details: SMap: S_parent: Sequence: F43G9
    Flanking_sequences: tgggataagaacaagttccgcaaggatcgt ttctcggtgacattgaactggatcttctcg
    Mapping_target: F43G9
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002791
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000366
    Laboratory: BA
    Status: Live
  Affects: Gene: WBGene00001414
    Transcript: F43G9.6a.1 (12)
      F43G9.6b.1 (12)
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00002791
  Genetics: Interpolated_map_position: I 3.00219
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00044487
        Curator_confirmed: WBPerson2369
        Remark: Figure 1 Paper_evidence: WBPaper00044487
            Curator_confirmed: WBPerson2369
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00044487
              Curator_confirmed: WBPerson2369
      WBPhenotype:0000357 Paper_evidence: WBPaper00001075
          WBPaper00000495
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: At the permissive temperature, ts mutants produced 100 to 300 progeny and less than 65 unfertilized eggs, which were laid late in the life cycle, like those of wild-type hermaphrodites. At the restrictive temperature of 25 deg C, animals produced only a few progeny and laid 72 to 282 unfertilized eggs. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001075
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001075
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001075
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00001075
              Curator_confirmed: WBPerson2021
            25 Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
      WBPhenotype:0000421 Paper_evidence: WBPaper00044487
        Curator_confirmed: WBPerson2369
        Remark: Figure 1 Paper_evidence: WBPaper00044487
            Curator_confirmed: WBPerson2369
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00044487
              Curator_confirmed: WBPerson2369
      WBPhenotype:0000509 Paper_evidence: WBPaper00001075
        Curator_confirmed: WBPerson2021
        Remark: Infertile spermatozoa with stubby motile pseudopods Paper_evidence: WBPaper00001075
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001075
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001075
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001075
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00001075
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: At the permissive temperature, ts mutants produced 100 to 300 progeny and less than 65 unfertilized eggs, which were laid late in the life cycle, like those of wild-type hermaphrodites. At the restrictive temperature of 25 deg C, animals produced only a few progeny and laid 72 to 282 unfertilized eggs. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
      WBPhenotype:0000806 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Animals are fertilization defective. Animals have a short (5-10 hrs) temperature sensitive period (TSP) late in their development. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
      WBPhenotype:0000863 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Males are ts sterile, producing less progeny at restrictive temperatures. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
      WBPhenotype:0001360 Paper_evidence: WBPaper00001075
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001075
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001075
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001075
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00001075
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001720 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Nonfunctional sperm of fer hermaphrodites are progressively lost fro the spermathecae of mutant hermaphrodites. by the time 40-70 oocytes have passed through the spermathecae of sterile hermaphrodites, most of the sperm have been swept out rather than migrating back through the spermathecal valve. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000495
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000033 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Animals grow and develop at the same rate as wild type, initiating egg laying at 45 hr post-hatching, as do N2 hermaphrodites. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
      WBPhenotype:0000186 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Oocytes are produced and are capable of being fertilized. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
      WBPhenotype:0000670 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: At the start of their egg-laying period, 45 hr post-hatching at 25 deg C, the spermathecae of these hermaphrodites contain over 170 sperm. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
      WBPhenotype:0000676 Paper_evidence: WBPaper00000495
        Curator_confirmed: WBPerson712
        Remark: Animals grow and develop at the same rate as wild type, initiating egg laying at 45 hr post-hatching, as do N2 hermaphrodites. Paper_evidence: WBPaper00000495
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:11724
    Models_disease_in_annotation: WBDOannot00001030
      WBDOannot00001031
      WBDOannot00001032
  Reference: WBPaper00001075
    WBPaper00000495
    WBPaper00015989
    WBPaper00044487
  Method: Substitution_allele