WormBase Tree Display for Variation: WBVar00249557

WBVar00249557 Name: Public_name: tm516
    Other_name: F12F6.3a.1:c.729+59_834delinsCTCTTGGATCTTTCAGGTAACTGTGTCTATGT
    HGVSg: CHROMOSOME_IV:g.11581430_11581915delinsCTCTTGGATCTTTCAGGTAACTGTGTCTATGT
  Sequence_details: SMap: S_parent: Sequence: F12F6
    Flanking_sequences: atagtgaatttacttttaaatgcccatact cgtcttggatctttcaggtaactgtgtcta
    Mapping_target: F12F6
    Source_location: 7 CHROMOSOME_IV 11581429 11581916 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: CTCTTGGATCTTTCAGGTAACTGTGTCTATGT
      Deletion
    PCR_product: tm516_external
      tm516_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 516
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00004360
    Transcript: F12F6.3a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F12F6.3a.1:c.729+59_834delinsCTCTTGGATCTTTCAGGTAACTGTGTCTATGT
        cDNA_position: ?-844
        CDS_position: ?-834
        Protein_position: ?-278
        Intron_number: 7/11
        Exon_number: 8/12
    Interactor: WBInteraction000524821
      WBInteraction000524823
  Isolation: Mutagen: TMP/UV
  Genetics: Map: IV
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Embryos die at different stages of development; class I embryos arrest at the 1-1.25 fold stage (68.4, n=92), class II embryos elongate until the 1.5 fold stage (21.1%), then arrest, class III embryos continue development to the 2.5 fold stage then arrest (10.5%). Abnormalities were first observed during closure of the ventral cleft (80%, n=10). Oozing of cells was seen among embryos of all classes, although only a few cells oozing were seen in class III embryos. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00029050
        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
          Homozygous progeny from homozygous hermaphrodites die before the L1 stage (99.3%, n=1622), or shortly after hatching (0.7%). Homozygous progeny from heterozygous hermaphrodites develop into adult worms 98.5% (n=404). Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00029050
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
      WBPhenotype:0000463 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Chondroitin levels are increased, heparan sulfate levels are decreased as measured by the amount of chondroitin and heparan sulfate GAG disaccharides, respectively, per mg of dried homogenate of worm. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
      WBPhenotype:0000604 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Some maternally rescued homozygous adults exhibited severe distortions in axon migration, especially with regards to the HSNs. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 26.5%, n=34 Paper_evidence: WBPaper00029050
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Some maternally rescued homozygous adults accumulated dead embryos. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 53% (n=143) Paper_evidence: WBPaper00029050
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00029050
        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
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Some maternally rescued Egl adults exhibited vulval defects, ranging in severity in the degree of protrusion from the body 10um. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 62% of Egl animals (n=43) Paper_evidence: WBPaper00029050
              Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0001478 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
      WBPhenotype:0001566 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0001681 Paper_evidence: WBPaper00045926
        Curator_confirmed: WBPerson105
        Phenotype_assay: Genotype: ojIs1 [pie-1::GFP::tbb-2 + unc-119(+)] Paper_evidence: WBPaper00045926
              Curator_confirmed: WBPerson105
    Phenotype_not_observed: WBPhenotype:0000047 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: E-daughter cell ingression and blastocoel formation occurred. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0000611 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Homozygote embryos exhibit twitching, active contractile movement (92.4%, n=92). Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
      WBPhenotype:0001510 Paper_evidence: WBPaper00029050
        Curator_confirmed: WBPerson712
        Remark: Expression of a pan-neuronal GFP reporter Ex[F25B3.3::gfp] and Ex[tph-1::DsRed] was observed in the expected cells, suggesting these neuronal cells have differentiated normally. Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00029050
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00029050
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Ex[F25B3.3::gfp; dpy-20(+)] or Ex[tph-1::DsRed] Paper_evidence: WBPaper00029050
              Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:206
    Models_disease_in_annotation: WBDOannot00000003
  Reference: WBPaper00029050
    WBPaper00045926
  Remark: 37528/37529-CTCTTGGATCTTTCAGGTAACTGTGTCTATGT-38014/38015(486 bp deletion + 32 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