WormBase Tree Display for Variation: WBVar00249754

WBVar00249754 Name: Public_name: tm724
    HGVSg
  Sequence_details: SMap: S_parent: Sequence: C06A5
    Flanking_sequences: ttctgaattccgtccactatcactatcata gctgcccaacttttcttctcgttcatcttc
    Mapping_target: C06A5
    Source_location: 7 CHROMOSOME_I 5996048 5996734 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: AAAAAAAAAAAAATNGG
      Deletion
    PCR_product: tm724_external
      tm724_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 724
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00006823
    Transcript: C06A5.7b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-543
        CDS_position: ?-396
        Protein_position: ?-132
        Intron_number: 4/11
        Exon_number: 5/12
      C06A5.7a.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-717
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 4/11
        Exon_number: 5/12
      C06A5.7a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-623
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 5/12
        Exon_number: 6/13
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000062 Paper_evidence: WBPaper00032338
        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
          A number of progeny arrested development during embryogenesis or early larval stages (38% lethal, n=40). Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032338
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
            WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
      WBPhenotype:0000366 Paper_evidence: WBPaper00032338
        Curator_confirmed: WBPerson712
        Remark: Arrested embryos (45%, n=22) were paralyzed at about the 3.5-fold stage and failed to hatch, as determined by time-lapse Nomarski. Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032338
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
      WBPhenotype:0001292 Paper_evidence: WBPaper00032338
        Curator_confirmed: WBPerson712
        Remark: Although actin organization was severely disorganized and formed a number of aggregates alpha-actinin and other myofibril components were only slightly affected. These other components, including myosin, were not found in the actin aggregates. Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032338
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006804 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
      WBPhenotype:0001569 Paper_evidence: WBPaper00032338
        Curator_confirmed: WBPerson712
        Remark: Striation of myosin thick filaments was less organized compared to control animals; myosin heavy chain was often wider with irregular spacing between bands. Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032338
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006804 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
      WBPhenotype:0001587 Paper_evidence: WBPaper00032338
        Curator_confirmed: WBPerson712
        Remark: Actin organization was severely disorganized and the striated pattern of actin filaments was difficult to discern. Actin arrays were discontinuous and a number of aggregates were formed in body wall muscles. These aggregates did not contain alpha-actinin. Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00032338
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00032338
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006804 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000002 PATO:0000460 Paper_evidence: WBPaper00032338
                Curator_confirmed: WBPerson712
  Reference: WBPaper00032338
  Remark: 15952/15953-AAAAAAAAAAAAATNGG-16637/16638 (685 bp deletion + 17 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