WormBase Tree Display for Variation: WBVar00088122

WBVar00088122 Evidence: Paper_evidence: WBPaper00031651
  Name: Public_name: js317
    Other_name: CE06730:p.Trp861Ter
      C01B7.6.1:c.2582delinsA
    HGVSg: CHROMOSOME_V:g.8816530delinsT
  Sequence_details: SMap: S_parent: Sequence: C01B7
    Flanking_sequences: tagcacgaccagctggcgagaaagctggat aatgcgatccctgaaaaagtttctggttt
    Mapping_target: C01B7
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029056
    Laboratory: NM
    Status: Live
  Affects: Gene: WBGene00004457
    Transcript: C01B7.6.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C01B7.6.1:c.2582delinsA
        HGVSp: CE06730:p.Trp861Ter
        cDNA_position: 2582-2583
        CDS_position: 2582-2583
        Protein_position: 861
        Exon_number: 6/16
        Codon_change: tGG/tAG
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 1.62282
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Mutants have a subtle phenotype of retaining eggs. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Mutants are mildly dumpy. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000625 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Synapses either do not form or lack the normal complement of synaptic vesicles. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008431 PATO:0000460 Paper_evidence: WBPaper00004147
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Branch defects scored in PLM neuron. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
        Penetrance: Incomplete: Paper_evidence: WBPaper00045955
              Curator_confirmed: WBPerson557
      WBPhenotype:0000816 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: During development, most (59%, n=54) mutant animals extend a synaptic branch from at least one of the bilateral axons. Nevertheless, branches appear to retract later in development. Regardless, normal patterns of synaptic branch targeting is often observed. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008431 PATO:0000460 Paper_evidence: WBPaper00004147
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000847 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: rpm-1 animals exhibit altered stereotypical patterns of presynaptic jsIs37[SNB-1::GFP] fluorescence. Animals never display the two fluorescent patches in the VNC and are missing several puncta in the nerve ring neuropil. These phenotypes persist throughout development. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0001331 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Morphology of different classes of motor neurons is altered. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Mutants respond to touch. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000354 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: mec-7 and mec-18 promoter-specific expression are still observed in mechanosensory neurons. Neurons are labeled by MEC-7 antibody. Cell bodies are positioned normally. Cell processes are fully extended, albeit often to far. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008431 PATO:0000460 Paper_evidence: WBPaper00004147
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: rpm-1 mutants move well. Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
      WBPhenotype:0001685 Paper_evidence: WBPaper00004147
        Curator_confirmed: WBPerson712
        Remark: Expression of GFP throughout AVA and AVD, as well as several other cell types, using the glr-1 promoter indicates normal morphology of the postsynaptic neurons (data not shown). Paper_evidence: WBPaper00004147
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004147
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: jsIs37[SNB-1::GFP] Paper_evidence: WBPaper00004147
              Curator_confirmed: WBPerson712
  Reference: WBPaper00031651
    WBPaper00004147
    WBPaper00045955
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00004457 Amber_UAG_or_Opal_UGA W(861)Stop
  Method: Substitution_allele