WormBase Tree Display for Variation: WBVar00241590

WBVar00241590 Evidence: Paper_evidence: WBPaper00005833
  Name: Public_name: rh252
    Other_name: F35H8.5a.1:c.152_238+165del
    HGVSg: CHROMOSOME_II:g.9578380_9578631del
  Sequence_details: SMap: S_parent: Sequence: F35H8
    Flanking_sequences: aaacaaatttaattatcaattatctgccac gccgaaaaagtttagcatgaaactagattt
    Mapping_target: F35H8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028852
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00001368
    Transcript: F35H8.5a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F35H8.5a.1:c.152_238+165del
        cDNA_position: 489-?
        CDS_position: 152-?
        Protein_position: 51-?
        Intron_number: 3/8
        Exon_number: 3/9
  Genetics: Interpolated_map_position: II 1.60927
    Mapping_data: In_multi_point: 3292
  Description: Phenotype: WBPhenotype:0000017 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: Ric phenotype is not rescued by an elevation in ambient temperature (data not shown). Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were monitored for paralysis over time in the presence of 1mM alicarb at 15C. Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
          Temperature: 15 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
      WBPhenotype:0000704 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: excretory canal defect. Canal is invariably short with multiple cysts of varying size clustered along length, especially at the tips. Visible only by Nomarski microscopy. Animal is somewhat pale Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001261 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: animal is somewhat pale Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
      WBPhenotype:0000205 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: data not shown. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
      WBPhenotype:0000616 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: synaptic vesicles in the cholinergic SAB neurons cluster normally (data not shown). Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005396 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
      WBPhenotype:0000816 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: As visualized by cell-specific gfp markers; data not shown. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006840 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
      WBPhenotype:0000905 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: As visualized by cell-specific gfp markers; data not shown. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006840 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
  Reference: WBPaper00018636
    WBPaper00006029
    WBPaper00012423
    WBPaper00015411
    WBPaper00015113
    WBPaper00022868
    WBPaper00005833
    WBPaper00015612
    WBPaper00023211
    WBPaper00017865
  Method: Deletion_allele