WormBase Tree Display for Variation: WBVar00143034

WBVar00143034 Evidence: Paper_evidence: WBPaper00026866
  Name: Public_name: e204
    Other_name: Y37E11C.1b.1:c.640G>A
      Y37E11C.1c.1:c.172G>A
      CE31638:p.Asp214Asn
      CE31639:p.Asp58Asn
      CE21557:p.Asp389Asn
      Y37E11C.1a.1:c.1165G>A
    HGVSg: CHROMOSOME_IV:g.3523049G>A
  Sequence_details: SMap: S_parent: Sequence: M57
    Flanking_sequences: gcgggaaagctcgcccttcccgccggaatc atgtctacactcaggtcaccgattcttccg
    Mapping_target: M57
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00026866
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (13)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006769
    Transcript: Y37E11C.1c.1 (12)
      Y37E11C.1b.1 (12)
      Y37E11C.1a.1 (12)
    Interactor: WBInteraction000569521
  Genetics: Interpolated_map_position: IV -3.30051
    Mapping_data: In_2_point: 99
        448
        484
        1643
        3276
      In_multi_point (13)
  Description: Phenotype: WBPhenotype:0000180 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: amphid, phasmid, PDE, PVP axons abnormal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005391 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005425 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0006747 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0006832 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000181 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons are posteriorly misdirected and never reach the nerve ring Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 9 9 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000583 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dumpyish Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
      WBPhenotype:0000644 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: very slow Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000880 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: multiple defects in axonogenesis Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 20 percent of mutants have ventral blocks and 62 percent have anterior blocks Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001329 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to curl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001588 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormally abundant neuronal microtubules Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003679 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001661 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: AWC specific str-2 expression Is altered: str-2 was expressed in either 0, 1, or 2 AWC cells in mutants Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00003760
                Curator_confirmed: WBPerson2021
      WBPhenotype:0002521 Paper_evidence: WBPaper00049389
        Curator_confirmed: WBPerson30255
        EQ_annotations: GO_term: GO:0005921 PATO:0000470 Paper_evidence: WBPaper00049389
                Curator_confirmed: WBPerson30255
      WBPhenotype:0002535 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weak FITC uptake Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000351 Paper_evidence: WBPaper00060038
        Curator_confirmed: WBPerson2987
        Remark: "As expected for a negative control, the empty feeding vector (L4440) fed to either wildtype or unc-33(e204) homozygous animals showed a low level of lethality, 3.4% and 9.3% on average, respectively. These data were not significantly different from each other in a pairwise comparison (p=0.872)." Paper_evidence: WBPaper00060038
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Strain: WBStrain00004126 Paper_evidence: WBPaper00060038
              Curator_confirmed: WBPerson2987
          Control_strain: WBStrain00000001 Paper_evidence: WBPaper00060038
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000436 Paper_evidence: WBPaper00040857
        Curator_confirmed: WBPerson712
        Remark: Mutants showed normal localization of SNB-1::VENUS in the RIA neuron. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00028448
        Curator_confirmed: WBPerson712
        Remark: PKD-2::GFP localization is not different from wild type. Paper_evidence: WBPaper00028448
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 and gcy-7 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6, otIs3 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (14)
  Method: Substitution_allele