WormBase Tree Display for Variation: WBVar00275227

WBVar00275227 Name: Public_name: x37
    Other_name: Y110A7A.3.1:c.446+1G>A
    HGVSg: CHROMOSOME_I:g.5143964G>A
  Sequence_details: SMap: S_parent: Sequence: Y110A7A
    Flanking_sequences: tgaatgggcaccgcctgcgatctataaaag tgaaaacttaaaagaaggattgaaacaaga
    Mapping_target: Y110A7A
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040927
    Laboratory: ZZ
    Status: Live
  Affects: Gene: WBGene00006797
    Transcript: Y110A7A.3.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: Y110A7A.3.1:c.446+1G>A
        Intron_number: 5/11
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00024530
  Genetics: Interpolated_map_position: I -0.354557
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 2mM aldicarb Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000421 Paper_evidence: WBPaper00000484
          WBPaper00027611
        Curator_confirmed: WBPerson2021
          WBPerson712
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00000484
                WBPaper00027611
              Curator_confirmed: WBPerson2021
                WBPerson712
        Phenotype_assay: Treatment: 1mM levamisole Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000964 Paper_evidence: WBPaper00027611
        Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00000896 Paper_evidence: WBPaper00027611
              Curator_confirmed: WBPerson712
      WBPhenotype:0001315 Paper_evidence: WBPaper00029130
        Curator_confirmed: WBPerson14391
        Remark: No levamisole-AChR activity observed in isolated muscle cells Paper_evidence: WBPaper00029130
            Curator_confirmed: WBPerson14391
      WBPhenotype:0001578 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Remark: Animals are resistant to the cholinergic agonist carbachol. Paper_evidence: WBPaper00000484
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 1mM carbachol Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001700 Paper_evidence: WBPaper00034750
        Curator_confirmed: WBPerson2021
        Remark: Mutants show defects in swimming Paper_evidence: WBPaper00034750
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001853 Paper_evidence: WBPaper00035150
        Curator_confirmed: WBPerson2021
        Remark: Mutant response to AAD 1470 was comparable to that observed in wild-type Paper_evidence: WBPaper00035150
            Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:3635
    Models_disease_in_annotation: WBDOannot00000871
      WBDOannot00000872
  Reference: WBPaper00027611
    WBPaper00025762
    WBPaper00029130
    WBPaper00035150
    WBPaper00016014
    WBPaper00000484
    WBPaper00016188
    WBPaper00018321
    WBPaper00023610
    WBPaper00034750
  Method: Substitution_allele