WormBase Tree Display for Variation: WBVar00144812

WBVar00144812 Evidence: Paper_evidence: WBPaper00031616
  Name: Public_name: e2410
    Other_name: T27A1.6.1:c.407+1G>A
    HGVSg: CHROMOSOME_II:g.519315G>A
  Sequence_details: SMap: S_parent: Sequence: T27A1
    Flanking_sequences: cctagatgtagtcccagtggactccaaaag taactttttcccttcaaaactttttttcta
    Mapping_target: T27A1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00050590
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004574
      WBStrain00047150
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003106
    Transcript: T27A1.6.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T27A1.6.1:c.407+1G>A
        Intron_number: 5/10
    Interactor: WBInteraction000586280
  Genetics: Interpolated_map_position: II -15.5963
  Description: Phenotype: WBPhenotype:0000070 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: The male tail morphogenesis was grossly abnormal. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005312 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          GO_term: GO:0048808 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-8(e1489) Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
      WBPhenotype:0000134 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: Only very weak expression of unc-129GFP was observed in neurons at the anterior and posterior and very few commissures could be observed exiting the ventral cord in mab-9 mutants. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          GO_term: GO:0010468 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: evIs82b [unc-129::GFP] Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
      WBPhenotype:0000384 Paper_evidence: WBPaper00031616
          WBPaper00037678
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Animals exhibited defects in axon guidance of dorsally-directed commissures. Defective axons stalled at specific points along their path and then extended laterally to cross a number of commissures. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
          mab-9(e2410) animals display axon guidance defects. VD motor neurons extend circumferential commissures that are sometimes misguided. Misguided commissures often stall before reaching the dorsal side and then cross adjacent commissures. Paper_evidence: WBPaper00037678
            Curator_confirmed: WBPerson557
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005334 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000022 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          GO_term: GO:0007411 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            GO:0030424 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-25::GFP or unc-53::GFP or unc-129::GFP Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
            unc-25::gfp Paper_evidence: WBPaper00037678
              Curator_confirmed: WBPerson557
      WBPhenotype:0000432 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: No spicules were evident. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005312 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-8(e1489) Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: Animals were slightly backwards Unc. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
      WBPhenotype:0001672 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: On average 1.5 expressing commisures were misguided per animal, as observed by unc-25::GFP expression. In addition, 100% of animals had at least 1 misguided axon, as observed by unc-53::GFP expression. Whereas, no defects were observed in wild-type animals expressing either GFP construct. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBbt:0005334 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000022 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          GO_term: GO:0007411 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
            GO:0030424 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-25::GFP or unc-53::GFP or unc-129::GFP Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001140 Paper_evidence: WBPaper00031616
        Curator_confirmed: WBPerson712
        Remark: Animals did not show any defects in neuronal cell body positioning. Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031616
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003679 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
          GO_term: GO:0051674 PATO:0000460 Paper_evidence: WBPaper00031616
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-25::GFP or unc-53::GFP or unc-129::GFP Paper_evidence: WBPaper00031616
              Curator_confirmed: WBPerson712
  Reference: WBPaper00031616
    WBPaper00050590
    WBPaper00037678
  Method: Substitution_allele