WormBase Tree Display for Variation: WBVar00091905

WBVar00091905 Name: Public_name: ok621
    Other_name: F42G9.9d.1:c.-78+9_*280delinsT
      F42G9.9d.3:c.-78+9_*280delinsT
      F42G9.9a.1:c.367+9_1352delinsT
      F42G9.9d.2:c.-78+9_*233delinsT
      F42G9.9b.1:c.367+9_1195-186delinsT
      F42G9.9c.1:c.367+9_1195-197delinsT
    HGVSg: CHROMOSOME_III:g.768867_770799delinsT
  Sequence_details: SMap: S_parent: Sequence: F42G9
    Flanking_sequences: AAGGAAGAAGAAGTTGTAGTCGGTAGGTTT CTCGTTATGATCGGACCACGCTTTCACTTG
    Mapping_target: F42G9
    Type_of_mutation: Insertion: t
      Deletion
    PCR_product: OK621_external
      OK621_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031522
    Component_of_genotype: WBGenotype00000079
      WBGenotype00000080
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00004212
    Transcript: F42G9.9d.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9d.2:c.-78+9_*233delinsT
        cDNA_position: ?-1370
        Intron_number: 1-7/7
        Exon_number: 2-8/8
      F42G9.9d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9d.1:c.-78+9_*280delinsT
        cDNA_position: ?-1417
        Intron_number: 1-5/6
        Exon_number: 2-7/7
      F42G9.9c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9c.1:c.367+9_1195-197delinsT
        Intron_number: 3-7/8
        Exon_number: 4-7/9
      F42G9.9a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9a.1:c.367+9_1352delinsT
        cDNA_position: ?-1357
        CDS_position: ?-1352
        Protein_position: ?-451
        Intron_number: 3-8/9
        Exon_number: 4-9/10
      F42G9.9b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9b.1:c.367+9_1195-186delinsT
        Intron_number: 3-7/8
        Exon_number: 4-7/9
      F42G9.9d.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F42G9.9d.3:c.-78+9_*280delinsT
        cDNA_position: ?-1481
        Intron_number: 2-6/7
        Exon_number: 3-8/8
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4612
  Description: Phenotype: WBPhenotype:0001332 Paper_evidence: WBPaper00038442
        Curator_confirmed: WBPerson712
        Remark: No significant differences regarding vesicle accumulation in cell bodies between wildtype and mutants were observed. Paper_evidence: WBPaper00038442
            Curator_confirmed: WBPerson712
      WBPhenotype:0001752 Paper_evidence: WBPaper00038442
        Curator_confirmed: WBPerson712
        Remark: Synaptic vesicles seem to travel further distances in mutants, while the overall vesicle density is increased in mutants. Paper_evidence: WBPaper00038442
            Curator_confirmed: WBPerson712
      WBPhenotype:0002039 Paper_evidence: WBPaper00038442
        Curator_confirmed: WBPerson712
        Remark: ptl-1 knockout rather affects retrograde than anterograde movements of UNC-104 or SNB-1. An obvious effect can be seen in retrograde pausing, run length, and motor/cargo reversals. Paper_evidence: WBPaper00038442
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001477 Paper_evidence: WBPaper00038442
        Curator_confirmed: WBPerson712
        Remark: ptl-1 knockout rather affects retrograde than anterograde movements of UNC-104 or SNB-1. Paper_evidence: WBPaper00038442
            Curator_confirmed: WBPerson712
      WBPhenotype:0002127 Paper_evidence: WBPaper00038442
        Curator_confirmed: WBPerson712
        Remark: The velocity of both the motor and its cargo was not affected. Paper_evidence: WBPaper00038442
            Curator_confirmed: WBPerson712
      WBPhenotype:0002469 Paper_evidence: WBPaper00038487
        Curator_confirmed: WBPerson712
        Remark: The probability and size of response to plate taps decreased with continued taps applied with a 10s interval, similar to the response of N2 animals. Paper_evidence: WBPaper00038487
            Curator_confirmed: WBPerson712
      WBPhenotype:0004027 Paper_evidence: WBPaper00038487
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit an escape response (reversal) similar to N2 animals upon an initial plate tap. Paper_evidence: WBPaper00038487
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:332
      DOID:680
    Models_disease_in_annotation: WBDOannot00000145
      WBDOannot00001034
  Reference: WBPaper00038487
    WBPaper00038442
  Remark: Last updated on 29 Nov 2002
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele