WormBase Tree Display for Variation: WBVar00250993

WBVar00250993 Name: Public_name: tm2047
    HGVSg: CHROMOSOME_III:g.8913655_8914161delinsC
  Sequence_details: SMap: S_parent: Sequence: ZK637
    Flanking_sequences: taatagtatgagattaaaattttcatttta tcaaagaatgtgaatgatcgagtaaaagca
    Mapping_target: ZK637
    Source_location: 7 CHROMOSOME_III 8913654 8914162 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: C
      Deletion
    PCR_product: tm2047_external
      tm2047_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040310
      WBStrain00040312
      WBStrain00040314
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2047
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00014028
    Transcript: ZK637.10.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-345
        CDS_position: ?-333
        Protein_position: ?-111
        Intron_number: 2/7
        Exon_number: 1-3/8
  Isolation: Mutagen: TMP/UV
  Genetics: Map: III
    Mapping_data: In_multi_point: 5518
  Description: Phenotype: WBPhenotype:0001937 Paper_evidence: WBPaper00040582
        Curator_confirmed: WBPerson2987
        Remark: "Interestingly, unlike dvIs2 worms, we managed to generate Aβ dvIs100 animals in a trxr-2 (tm2047) mutant background and confirmed their increased paralysis when compared with its respective control (Fig. 8B)." Paper_evidence: WBPaper00040582
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: dvIs100 [Punc-54::A-beta-1-42::unc-54 3'-UTR] Paper_evidence: WBPaper00040582
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed (12)
  Disease_info: Modifies_disease: DOID:10652
    Modifies_disease_in_annotation: WBDOannot00000109
  Reference: WBPaper00040582
  Remark: 29689/29690-C-30196/30197 (507 bp deletion + 1 bp insertion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele