WormBase Tree Display for Variation: WBVar00089556

WBVar00089556 Evidence: Paper_evidence: WBPaper00050947
  Name: Public_name: n499
    Other_name: C26C6.2.1:c.535C>T
      CE05311:p.Arg179Cys
    HGVSg: CHROMOSOME_I:g.7524467C>T
  Sequence_details: SMap: S_parent: Sequence: C26C6
    Flanking_sequences: CAACCAACTGAGCAAGATATTCTCCGAACT GTGTCAAAACAACTGGTATTGTTGAAGTTC
    Mapping_target: C26C6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00050947
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026796
      WBStrain00040605
      WBStrain00050646
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001648
    Transcript: C26C6.2.1 (12)
  Genetics: Interpolated_map_position: I 2.09884
    Mapping_data: In_multi_point: 988
        989
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Remark: severe defect Paper_evidence: WBPaper00000914
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: n499/+ Paper_evidence: WBPaper00000914
              Curator_confirmed: WBPerson48
      WBPhenotype:0000020 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: n499/+ Paper_evidence: WBPaper00000914
              Curator_confirmed: WBPerson48
      WBPhenotype:0000062 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: recessive lethal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000553 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Remark: The birefringence of the body wall muscles is weak and disorganized Paper_evidence: WBPaper00000914
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: n499/+ Paper_evidence: WBPaper00000914
              Curator_confirmed: WBPerson48
      WBPhenotype:0000622 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: muscle defective Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: n499/+is uncoordinated, paralysed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000644 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Remark: move only occasionally Paper_evidence: WBPaper00000914
            Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: n499/+ Paper_evidence: WBPaper00000914
              Curator_confirmed: WBPerson48
      WBPhenotype:0000867 Paper_evidence: WBPaper00000914
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: embryonic arrest Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: n499/n499 Paper_evidence: WBPaper00000914
              Curator_confirmed: WBPerson48
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:0050709
    Models_disease_in_annotation: WBDOannot00001093
  Reference: WBPaper00000914
    WBPaper00028201
    WBPaper00050947
    WBPaper00061915
  Method: Substitution_allele