WormBase Tree Display for Variation: WBVar01473861

WBVar01473861 Name: Public_name: tm6127
    Other_name: T25D10.2.1:c.410_502-121del
    HGVSg: CHROMOSOME_II:g.6399950_6400173del
  Sequence_details: SMap: S_parent: Sequence: T25D10
    Flanking_sequences: atgaaatatcacaaaatgaaaaaataaagt atttccaaaaacctaaaaaagtaatcataa
    Mapping_target: T25D10
    Source_location: 7 CHROMOSOME_II 6399949 6400174 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm6127_external
      tm6127_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 6127
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00020800
    Transcript: T25D10.2.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T25D10.2.1:c.410_502-121del
        cDNA_position: 413-?
        CDS_position: 410-?
        Protein_position: 137-?
        Intron_number: 3/5
        Exon_number: 3/6
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype: WBPhenotype:0000643 Paper_evidence: WBPaper00049101
        Curator_confirmed: WBPerson28441
        Remark: Figure 1F, tm6127; n2420 animals displayed increased convulsion frequency compared to n2420 single mutants. Paper_evidence: WBPaper00049101
            Curator_confirmed: WBPerson28441
        Phenotype_assay: Genotype: acr-2(n2420) Paper_evidence: WBPaper00049101
              Curator_confirmed: WBPerson28441
      WBPhenotype:0001701 Paper_evidence: WBPaper00049101
        Curator_confirmed: WBPerson28441
        Remark: Figure 1F, tm6127; n2420 animals displayed increased convulsion frequency compared to n2420 single mutants. Paper_evidence: WBPaper00049101
            Curator_confirmed: WBPerson28441
        Phenotype_assay: Genotype: acr-2(n2420) Paper_evidence: WBPaper00049101
              Curator_confirmed: WBPerson28441
      WBPhenotype:0002001 Paper_evidence: WBPaper00049101
        Curator_confirmed: WBPerson28441
        Remark: Increased UNC-10 stained synapses in Figure 3A-B, increased cholinergic synapses in Figure 4A-B, 5B, and 8B. Paper_evidence: WBPaper00049101
            Curator_confirmed: WBPerson28441
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0002001 Paper_evidence: WBPaper00049101
        Curator_confirmed: WBPerson28441
        Remark: No observed changes in GABAergic synapse number in Figure 4C-D Paper_evidence: WBPaper00049101
            Curator_confirmed: WBPerson28441
  Reference: WBPaper00049101
  Remark: 3666/3667-3890/3891 (224 bp deletion)
    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