WormBase Tree Display for Variation: WBVar00091864

WBVar00091864 Evidence: Paper_evidence: WBPaper00040220
  Name: Public_name: ok578
    Other_name: F25D1.1c.1:c.190_820-167delinsTT
      F25D1.1b.1:c.136_766-167delinsTT
      F25D1.1a.1:c.439_1069-167delinsTT
    HGVSg: CHROMOSOME_V:g.10533887_10534870delinsAA
  Sequence_details: SMap: S_parent: Sequence: F25D1
    Flanking_sequences: atgccacgtggaaggtttaaaatggataaa tccatcgaaaacggcaaagaatgaccaatc
    Mapping_target: F25D1
    Type_of_mutation: Insertion: AA
      Deletion
    PCR_product: ok578_external
      ok578_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035646
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00006460
    Transcript: F25D1.1c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F25D1.1c.1:c.190_820-167delinsTT
        cDNA_position: 190-?
        CDS_position: 190-?
        Protein_position: 64-?
        Intron_number: 3-5/5
        Exon_number: 3-5/6
      F25D1.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F25D1.1b.1:c.136_766-167delinsTT
        cDNA_position: 283-?
        CDS_position: 136-?
        Protein_position: 46-?
        Intron_number: 4-6/6
        Exon_number: 4-6/7
      F25D1.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F25D1.1a.1:c.439_1069-167delinsTT
        cDNA_position: 843-?
        CDS_position: 439-?
        Protein_position: 147-?
        Intron_number: 5-7/8
        Exon_number: 5-7/9
    Interactor: WBInteraction000518356
      WBInteraction000518373
      WBInteraction000518374
      WBInteraction000518375
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000633 Paper_evidence: WBPaper00040220
        Curator_confirmed: WBPerson712
        Remark: ppm-1(lf) animals had defects in synaptic branch extension that were very low penetrance. Paper_evidence: WBPaper00040220
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00040220
                Curator_confirmed: WBPerson712
      WBPhenotype:0002069 Paper_evidence: WBPaper00040220
        Curator_confirmed: WBPerson712
        Remark: Mutants display two types of ALM axon termination defects: less severe short hooks and more severe big hooks where the axon overextends and hooks toward the posterior of the animal. Big hooks is the predominant phenotype on mutants. Small hook defects occurred with low penetrance. | The majority of PLM neurons in rpm-1(lf) mutants (90%) display a more severe phenotype in which the PLM axon overextends beyond the ALM cell body and also hooks ventrally. Paper_evidence: WBPaper00040220
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00040220
                Curator_confirmed: WBPerson712
            WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00040220
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000679 Paper_evidence: WBPaper00040220
        Curator_confirmed: WBPerson712
        Remark: SNB::GFP puncta were normal Paper_evidence: WBPaper00040220
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040220
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele