WormBase Tree Display for Variation: WBVar00250404

WBVar00250404 Name: Public_name: tm1411
    HGVSg: CHROMOSOME_I:g.5869387_5870043delinsATATGTATATA
  Sequence_details: SMap: S_parent: Sequence: F33D11
    Flanking_sequences: cctcgttcctaaccgcaaaggtttttgtat tgttttttttctattggtatttacgtacat
    Mapping_target: F33D11
    Source_location: 7 CHROMOSOME_I 5869386 5870044 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: ATATGTATATA
      Deletion
    PCR_product: tm1411_external
      tm1411_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00036627
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 1411
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00018008
    Transcript: F33D11.11.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-410
        CDS_position: ?-403
        Protein_position: ?-135
        Intron_number: 2/5
        Exon_number: 1-3/6
    Interactor: WBInteraction000520676
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00031951
        Curator_confirmed: WBPerson712
        Remark: N=1045 Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000013 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
            WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0000054 Paper_evidence: WBPaper00031951
        Curator_confirmed: WBPerson712
        Remark: N=1045 Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Comment to the NBP from Dr. A. Chisholm: maternal effect Let. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
              CZ
        Maternal: With_maternal_effect: Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0000195 Paper_evidence: WBPaper00031951
        Curator_confirmed: WBPerson712
        Remark: Animals showed defects in DTC migration along the ventral body wall muscle between the hyp7 hypodermal syncytium (phase 1) and during the migration along the dorsal body wall muscle (phase 3), and, to a low extent, while crossing hyp7 (phase 2), as visualized by lag-2::GFP expression. Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0000520 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment to the NBP from Dr. A. Chisholm: morphogenesis defects. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: CZ
        Maternal: With_maternal_effect: Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00031951
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0001140 Paper_evidence: WBPaper00031951
        Curator_confirmed: WBPerson712
        Remark: Many head neurons were positioned posteriorly in mutants, as visualized by a pan-neuronal transgenic reporter and DiI uptake. Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006751 PATO:0001922 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
            WBbt:0005394 PATO:0001922 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
          GO_term: GO:0051674 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Amphid sensory neurons were labeled with DiI. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0001504 Paper_evidence: WBPaper00051395
        Curator_confirmed: WBPerson425
      WBPhenotype:0001566 Paper_evidence: WBPaper00031951
        Curator_confirmed: WBPerson712
        Remark: Animals had variable expressed enclosure defects, as assayed by 4D time-lapse DIC micrographs. Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00031951
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000013 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
          GO_term: GO:0009790 PATO:0000460 Paper_evidence: WBPaper00031951
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were reared on NA22 bacteria instead of OP50. Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00031951
              Curator_confirmed: WBPerson712
      WBPhenotype:0001570 Paper_evidence: WBPaper00040690
        Curator_confirmed: WBPerson425
        Remark: abnormal mitochondrial localization Paper_evidence: WBPaper00040690
            Curator_confirmed: WBPerson425
        EQ_annotations: GO_term: GO:0005739 PATO:0000460 Paper_evidence: WBPaper00040690
                Curator_confirmed: WBPerson425
  Disease_info: Models_disease: DOID:332
    Models_disease_in_annotation: WBDOannot00000522
  Reference: WBPaper00040690
    WBPaper00031951
    WBPaper00051395
  Remark: 36170/36171-ATATGTATATA-36827/36828 (657 bp deletion + 11 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