WormBase Tree Display for Variation: WBVar00088248

WBVar00088248 Evidence: Person_evidence: WBPerson1068
  Name: Public_name: km17
    Other_name: T27C10.6.1:c.5034_6388-141del
    HGVSg: CHROMOSOME_I:g.10881138_10883054del
  Sequence_details: SMap: S_parent: Sequence: T27C10
    Flanking_sequences: ttctccatcgatactttgaaataaaatttt gtatccggtgcaagttctctcatatgaaga
    Mapping_target: T27C10
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: KU
    Status: Live
  Affects: Gene: WBGene00003068
      WBGene00020858
    Transcript: T27C10.3.1 VEP_consequence: splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/8
        Exon_number: 1/9
      T27C10.6.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T27C10.6.1:c.5034_6388-141del
        cDNA_position: 5046-?
        CDS_position: 5034-?
        Protein_position: 1678-?
        Intron_number: 17-18/21
        Exon_number: 17-18/22
    Interactor: WBInteraction000502836
      WBInteraction000502839
      WBInteraction000541608
      WBInteraction000541724
  Genetics: Interpolated_map_position: I 5.56337
    Mapping_data: In_multi_point: 4480
  Description: Phenotype: WBPhenotype:0000436 Paper_evidence: WBPaper00029175
        Curator_confirmed: WBPerson1068
        Remark: synaptic vesicle (SV) proteins are mislocalized to both presynaptic and dendritic endings in neurons. Paper_evidence: WBPaper00029175
            Curator_confirmed: WBPerson1068
        EQ_annotations: GO_term: GO:0030425 PATO:0000460 Paper_evidence: WBPaper00029175
                Curator_confirmed: WBPerson1068
      WBPhenotype:0000459 Paper_evidence: WBPaper00034758
        Curator_confirmed: WBPerson2021
        Remark: The lrk-1 [km17] strain showed enhanced vulnerability to rotenone. lrk-1 [km17]/DAT::GFP showed enhanced loss of DAT::GFP fluorescence in response to rotenone treatment compared with control Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
      WBPhenotype:0002069 Paper_evidence: WBPaper00049878
        Curator_confirmed: WBPerson8620
        Remark: Less than 20% of animals exhibit overextension of ALM axons Paper_evidence: WBPaper00049878
            Curator_confirmed: WBPerson8620
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00049878
                Curator_confirmed: WBPerson8620
          GO_term: GO:0030424 PATO:0000460 Paper_evidence: WBPaper00049878
                Curator_confirmed: WBPerson8620
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00049878
              Curator_confirmed: WBPerson8620
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00034758
        Curator_confirmed: WBPerson2021
        Remark: The km17 deletion exerted no affect on baseline viability Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000436 Paper_evidence: WBPaper00040857
        Curator_confirmed: WBPerson712
        Remark: No mislocalization defects were observed of SNB-1 in the RIA neuron of lrk-1(km17) mutants. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00034758
        Curator_confirmed: WBPerson2021
        Remark: In the lrk-1 [km17] strain, SNB expression is mislocalized at the dendritic tip of the amphid sensory neuron Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00034758
            Curator_confirmed: WBPerson2021
      WBPhenotype:0004028 Paper_evidence: WBPaper00036154
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit a basal slowing response in response to food, characteristic of control worms. Paper_evidence: WBPaper00036154
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:14330
    Models_disease_in_annotation: WBDOannot00000473
  Reference: WBPaper00040857
    WBPaper00029175
    WBPaper00034758
    WBPaper00036154
    WBPaper00010007
    WBPaper00049878
  Method: Deletion_allele