WormBase Tree Display for Variation: WBVar00241516

WBVar00241516 Name: Public_name: rh43
    Other_name: CE47855:p.Gly96Glu
      C52E12.2a.2:c.287G>A
      CE48050:p.Gly96Glu
      C52E12.2b.1:c.287G>A
      C52E12.2a.1:c.287G>A
    HGVSg: CHROMOSOME_II:g.6996791G>A
  Sequence_details: SMap: S_parent: Sequence: C52E12
    Flanking_sequences: atgtctgcatttttgcatacggtcaaacag atcaggaaaatcatatacaatgatgggaaa
    Mapping_target: C52E12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00037788
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028844
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00006831
    Transcript: C52E12.2a.2 (12)
      C52E12.2b.1 (12)
      C52E12.2a.1 (12)
    Interactor: WBInteraction000505162
      WBInteraction000555715
      WBInteraction000555716
  Genetics: Interpolated_map_position: II 0.209091
  Description: Phenotype: WBPhenotype:0000180 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: 30/58 adult animals showed defects as visualized by unc-47::GFP. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004822 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
      WBPhenotype:0000517 Paper_evidence: WBPaper00001424
        Curator_confirmed: WBPerson233
        Remark: several unc-104 alleles showed deficits in locomotion, feeding rate and defecation that varied in proportion to changes in synaptic vesicle transport within axons Paper_evidence: WBPaper00001424
            Curator_confirmed: WBPerson233
      WBPhenotype:0000565 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: severe Person_evidence: WBPerson261
            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:0000643 Paper_evidence: WBPaper00040335
        Curator_confirmed: WBPerson7190
      WBPhenotype:0000672 Paper_evidence: WBPaper00001424
        Curator_confirmed: WBPerson233
        Remark: Figures 3 and 4 show changes in localization of synaptic vesicles in unc-104 alleles, with most vesicles concentrated in the neuron soma, while failing to reach chemical synaptic locales in the nerve ring Paper_evidence: WBPaper00001424
            Curator_confirmed: WBPerson233
      WBPhenotype:0002490 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: 30/58 adult animals showed defects as visualized by unc-47::GFP. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004822 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: viable Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001661 Paper_evidence: WBPaper00039901
        Curator_confirmed: WBPerson712
        Remark: Mutants of more severe alleles of unc-104 also did not cause 2AWC-ON. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00039901
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
  Reference (12)
  Remark: In addition to the lesion described, the rh43 mutation also gives rise to a G314E mutation with flanks tgacgtggcttctgagagaaaatctgggag aaattcgaaaactgcgatgctcgcggcatt Paper_evidence: WBPaper00037788
  Method: Substitution_allele