WormBase Tree Display for Variation: WBVar00251280

WBVar00251280 Name: Public_name: tm2391
    Other_name: F46A9.5.1:c.81+57_358-14del
    HGVSg: CHROMOSOME_I:g.9471701_9472136del
  Sequence_details: SMap: S_parent: Sequence: CHROMOSOME_I
    Flanking_sequences: tcgttatttttgtctaaaaaaactaaatcg ttcatatttttaggctgccaactatttgga
    Mapping_target: CHROMOSOME_I
    Source_location: 7 CHROMOSOME_I 9471700 9472137 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2391_external
      tm2391_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2391
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00004807
    Transcript: F46A9.5.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F46A9.5.1:c.81+57_358-14del
        Intron_number: 2-3/4
        Exon_number: 3/5
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00032114
        Curator_confirmed: WBPerson2021
        Remark: skr-1(tm2391) animals can not be maintained as a homozygous strain due to embryonic and larval lethality Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000054 Paper_evidence: WBPaper00032114
        Curator_confirmed: WBPerson2021
        Remark: skr-1(tm2391) animals can not be maintained as a homozygous strain due to embryonic and larval lethality Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal or sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0000172 Paper_evidence: WBPaper00032114
        Curator_confirmed: WBPerson2021
        Remark: Hyperplasia of several tissues including the uterus and the spermatheca of the somatic gonad Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005319 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
            WBbt:0006760 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00032114
        Curator_confirmed: WBPerson2021
        Remark: Rare skr-1(tm2391) homozygous escapers become uncoordinated sterile adults Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00032114
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
          WBPerson2021
        Remark: Classified as lethal or sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
          Rare skr-1(tm2391) homozygous escapers become uncoordinated sterile adults Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032114
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032114
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00032114
  Remark: [F46A9]29584/29585-[F30A10]257/258 (435 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
    Old Mapping_target F46A9 updated based on the VEP analysis pipeline to CHROMOSOME_I.
  Method: NBP_knockout_allele