WormBase Tree Display for Variation: WBVar00089610

WBVar00089610 Evidence: Paper_evidence: WBPaper00002912
  Name: Public_name: n582
    Other_name: CE28820:p.Arg899His
      C48A7.1b.1:c.2696G>A
      CE31165:p.Arg899His
      C48A7.1a.1:c.2696G>A
    HGVSg: CHROMOSOME_IV:g.7411562G>A
  Sequence_details: SMap: S_parent: Sequence: C48A7
    Flanking_sequences: tgtctgtcgtcaagattcttcgtgtgctcc tgtgctccgtccacttcgtgcaattaaccg
    Mapping_target: C48A7
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002912
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (12)
    Laboratory: MT
    Status: Live
  Linked_to: WBVar02125351
  Affects: Gene: WBGene00001187
    Transcript: C48A7.1a.1 (12)
      C48A7.1b.1 (12)
  Genetics: Interpolated_map_position: IV 3.33449
    Mapping_data: In_multi_point: 624
        3033
      In_pos_neg_data: 8296
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00031871
        Curator_confirmed: WBPerson712
        Remark: Animals retained significantly more eggs in utero than wild-type worms. Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00001631 Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: DMSO control conditions. Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
      WBPhenotype:0000007 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0000011 Paper_evidence: WBPaper00031871
        Curator_confirmed: WBPerson712
        Remark: Animals were resistant to population growth retardation induced by nemadipine-A, a dihydropyridine (DHP) analog. In addition, L1 and L2 exhibited variable morphology at concentrations significantly greater than the concentration that induced Vab in wild-type larvae. Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were treated with various concentrations of nemadipine in DMSO. Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
      WBPhenotype:0000022 Paper_evidence: WBPaper00000635
          WBPaper00031871
        Curator_confirmed: WBPerson48
          WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
      WBPhenotype:0000349 Paper_evidence: WBPaper00000635
          WBPaper00031871
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: floppy Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
      WBPhenotype:0000646 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
      WBPhenotype:0000862 Paper_evidence: WBPaper00004071
        Curator_confirmed: WBPerson712
        Remark: moderate bloating; n582/Df more severe phenotypes; easy to score (ES3) in adult, difficult to score (ES2) at other stages Paper_evidence: WBPaper00004071
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Paper_evidence: WBPaper00004071
            Curator_confirmed: WBPerson712
      WBPhenotype:0001068 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 5 mg/ml serotonin Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001101 Paper_evidence: WBPaper00031871
        Curator_confirmed: WBPerson712
        Remark: Animals retained less eggs after treatment with dihydropyridine (DHP) analog nemadipine compared to animals treated with DMSO alone; wild-type worms retained more eggs after treatment with the DHP anaolog. Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00001631 Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
        EQ_annotations: GO_term: GO:0018991 PATO:0000460 Paper_evidence: WBPaper00031871
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: 5uM nemadipine in DMSO or DMSO alone Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001340 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: Animals respond only weakly to imipramine. Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Disease_info: Models_disease: DOID:11723
    Models_disease_in_annotation: WBDOannot00000289
  Reference (17)
  Method: Substitution_allele