WormBase Tree Display for Variation: WBVar00241517

WBVar00241517 Evidence: Paper_evidence: WBPaper00035146
  Name: Public_name: rh46
    Other_name: F41C6.1.1:c.469G>C
      F41C6.1.2:c.469G>C
      CE04538:p.Ala157Pro
    HGVSg: CHROMOSOME_X:g.6890708G>C
  Sequence_details: SMap: S_parent: Sequence: F41C6
    Flanking_sequences: gcacttctgttcccgtctcccagattcaatg cactttacaagtctgctgactttggaaagac
    Mapping_target: F41C6
    Type_of_mutation: Substitution: g c Paper_evidence: WBPaper00035146
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (21)
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00006746
    Transcript: F41C6.1.1 (12)
      F41C6.1.2 (12)
    Interactor (31)
  Genetics: Interpolated_map_position: X -2.09889
  Description: Phenotype: WBPhenotype:0000104 Paper_evidence: WBPaper00035146
        Curator_confirmed: WBPerson2021
        Remark: UNC-40::GFP is not asymmetrically localized like WT but is more equally distributed across the HSN surface. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000384 Paper_evidence: WBPaper00035146
          WBPaper00031828
        Curator_confirmed: WBPerson712
        Remark: AVM axons migrate anteriorly and HSN axons migrate in a number of aberrant patterns. These defects are more pronounced at 20 deg C versus 15 deg C. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson712
          Animals exhibit dorsal guidance defects. Paper_evidence: WBPaper00031828
            Curator_confirmed: WBPerson712
          Loss of unc-6 function results in 40% failure of ALM ventral outgrowth. Paper_evidence: WBPaper00031828
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00035146
                  WBPaper00031828
                Curator_confirmed: WBPerson712
            WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00035146
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00031828
                Curator_confirmed: WBPerson712
            WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00031828
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035146
              Curator_confirmed: WBPerson712
      WBPhenotype:0000541 Paper_evidence: WBPaper00035146
        Curator_confirmed: WBPerson2021
        Remark: In unc-6 mutants, 80% of the DA and DB motor axons fail to reach the dorsal cord at 20C. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00035146
                Curator_confirmed: WBPerson2021
            WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00035146
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00035146
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000679 Paper_evidence: WBPaper00035146
        Curator_confirmed: WBPerson712
        Remark: UNC-40::GFP is globally localized unlike in wild type animals, and in HSN is evenly distributed along the surface rather than asymmetrically localized. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson712
  Reference: WBPaper00019344
    WBPaper00031828
    WBPaper00035146
    WBPaper00010791
    WBPaper00026240
    WBPaper00025961
  Method: Substitution_allele