WormBase Tree Display for Variation: WBVar00143821

WBVar00143821 Evidence: Paper_evidence: WBPaper00004275
  Name: Public_name: e1196
    Other_name: JC8.10b.1:c.2194dup
      CE28239:p.Asp726GlyfsTer2
      CE29050:p.Asp732GlyfsTer2
      JC8.10a.1:c.2176dup
    HGVSg: CHROMOSOME_IV:g.13265305_13265306insC
  Sequence_details: SMap: S_parent: Sequence: JC8
    Flanking_sequences: atttcaactatcgaattaatttgtcggggg atgaagttaagaatgctgttagaaatggag
    Mapping_target: JC8
    Type_of_mutation: Insertion: g
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004267
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006763
    Transcript: JC8.10b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: JC8.10b.1:c.2194dup
        HGVSp: CE29050:p.Asp732GlyfsTer2
        cDNA_position: 2199-2200
        CDS_position: 2194-2195
        Protein_position: 732
        Exon_number: 8/12
        Codon_change: gat/gGat
        Amino_acid_change: D/GX
      JC8.10a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: JC8.10a.1:c.2176dup
        HGVSp: CE28239:p.Asp726GlyfsTer2
        cDNA_position: 2179-2180
        CDS_position: 2176-2177
        Protein_position: 726
        Exon_number: 7/11
        Codon_change: gat/gGat
        Amino_acid_change: D/GX
  Genetics: Interpolated_map_position: IV 8.51247
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants are strongly resistant to inhibitors of acetylcholinesterase, indicative of a decrease in acetylcholine release. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000210 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants have reduced numbers of enteric muscle contractions, indicative of GABAergic function. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals are small. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000455 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals move backwards with a jerky motion. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000565 Paper_evidence: WBPaper00004275
        Curator_confirmed: WBPerson712
        Remark: Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; frequently coil. Paper_evidence: WBPaper00004275
            Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
  Reference: WBPaper00035198
    WBPaper00014864
    WBPaper00004275
    WBPaper00015216
    WBPaper00013791
  Method: Insertion_allele