WormBase Tree Display for Variation: WBVar00094986

WBVar00094986 Evidence: Paper_evidence: WBPaper00004275
  Name: Public_name: ox1
    Other_name: CE28239:p.Trp796Ter
      JC8.10b.1:c.2406G>A
      JC8.10a.1:c.2388G>A
      CE29050:p.Trp802Ter
    HGVSg: CHROMOSOME_IV:g.13263969C>T
  Sequence_details: SMap: S_parent: Sequence: JC8
    Flanking_sequences: tgcacccgcatggactgatcgaattctttg aaagatcagagaaagaagggaaaaacgcaa
    Mapping_target: JC8
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004275
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: EG
    Status: Live
  Affects: Gene: WBGene00006763
    Transcript: JC8.10b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: JC8.10b.1:c.2406G>A
        HGVSp: CE29050:p.Trp802Ter
        cDNA_position: 2411
        CDS_position: 2406
        Protein_position: 802
        Exon_number: 9/12
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      JC8.10a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: JC8.10a.1:c.2388G>A
        HGVSp: CE28239:p.Trp796Ter
        cDNA_position: 2391
        CDS_position: 2388
        Protein_position: 796
        Exon_number: 8/11
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: IV 8.51129
  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
  Reference: WBPaper00004275
  Method: Substitution_allele