WormBase Tree Display for Variation: WBVar00241245

WBVar00241245 Name: Public_name: qm37
    Other_name: qm37tsmat
      CE30240:p.Cys772Tyr
      C07H6.6.1:c.2315G>A
    HGVSg: CHROMOSOME_III:g.7515811C>T
  Sequence_details: SMap: S_parent: Sequence: C07H6
    Flanking_sequences: tcatggttgcatcgatggtttatgtgagat tggcgtatgtcctcaaattcatcgaatgtc
    Mapping_target: C07H6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004941
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026638
      WBStrain00026641
      WBStrain00026648
      WBStrain00026665
    Laboratory: MQ
    Status: Live
  Affects: Gene: WBGene00000537
    Transcript: C07H6.6.1 (12)
    Interactor: WBInteraction000009170
      WBInteraction000009171
      WBInteraction000050636
      WBInteraction000050638
      WBInteraction000517493
  Genetics: Interpolated_map_position: III -0.724776
    Mapping_data: In_multi_point: 2742
        2743
  Description: Phenotype: WBPhenotype:0000043 Paper_evidence: WBPaper00003496
        Curator_confirmed: WBPerson712
        Remark: Mutants develop more slowly than N2. Paper_evidence: WBPaper00003496
            Curator_confirmed: WBPerson712
      WBPhenotype:0000050 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: embryonic lethal at 25C, some lethality at all temperatures Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000120 Paper_evidence: WBPaper00036073
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a significant decrease in SOD-1 protein. Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
      WBPhenotype:0000676 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slow growth; profound maternal and zygotic rescue Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000741 Paper_evidence: WBPaper00031868
        Curator_confirmed: WBPerson712
        Remark: Animals exposed to nitrogen (HN2) showed no apoptotic corpses in the germ line, whereas corpses were observed in N2 animals. Paper_evidence: WBPaper00031868
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were treated with 400uM HN2. Paper_evidence: WBPaper00031868
              Curator_confirmed: WBPerson712
      WBPhenotype:0001663 Paper_evidence: WBPaper00036073
        Curator_confirmed: WBPerson712
        Remark: At 0.2 mm paraquat, worms developed as well as wild-type worms. At a higher concentration of 0.3mM paraquat, we found that worms grew to a further developmental stage than wild-type worms. Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004938 Paper_evidence: WBPaper00036073
              Curator_confirmed: WBPerson712
            WBMol:00002747 Paper_evidence: WBPaper00036073
              Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
      WBPhenotype:0001711 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slow rhythms, phenotypes similar to Clk-1; profound maternal and zygotic rescue Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0002163 Paper_evidence: WBPaper00036073
        Curator_confirmed: WBPerson712
        Remark: Measurement of whole-worm oxygen consumption in day 1 adult worms revealed that Clk mutants showed decreased oxygen consumption compared to wild-type worms. | Unlike control animals, the Clk mutants do not show any decrease in oxygen consumption from day 1 to day 7. Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000641 Paper_evidence: WBPaper00036073
        Curator_confirmed: WBPerson712
        Remark: clk-2 mutants remained mobile as long as wild-type worms. Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
      WBPhenotype:0001574 Paper_evidence: WBPaper00036073
        Curator_confirmed: WBPerson712
        Remark: ATP levels are normal despite decreased mitochondrial function. Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00036073
            Curator_confirmed: WBPerson712
  Reference (14)
  Method: Substitution_allele