WormBase Tree Display for Variation: WBVar00146368

WBVar00146368 Name: Public_name: gm324
    Other_name: C07G1.4a.1:c.203_538+798del
    HGVSg: CHROMOSOME_IV:g.8196630_8198521del
  Sequence_details: SMap: S_parent: Sequence: C07G1
    Flanking_sequences: aacttttaaaatcagatcgtggtgcatgga agtaactttccatccgttctcctgtttgcc
    Mapping_target: C07G1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028743
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00006957
    Transcript: C07G1.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C07G1.4a.1:c.203_538+798del
        cDNA_position: 227-?
        CDS_position: 203-?
        Protein_position: 68-?
        Intron_number: 3-4/11
        Exon_number: 3-4/12
    Interactor: WBInteraction000009180
      WBInteraction000009181
      WBInteraction000051765
      WBInteraction000051766
  Genetics: Interpolated_map_position: IV 3.6599
    Mapping_data: In_multi_point: 5010
  Description: Phenotype: WBPhenotype:0000384 Paper_evidence: WBPaper00032090
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited mild VD/DD axon guidance defects. However, only 2% PDE axons failed to reach the VCN or reached it at a >45 angle from the PDE cell body (n=100). Paper_evidence: WBPaper00032090
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006747 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Phenotypes were also scored for maternally rescued progeny. Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
          Genotype: juIs73 or osm-6::gfp Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
      WBPhenotype:0000882 Paper_evidence: WBPaper00056964
        Curator_confirmed: WBPerson48777
        Remark: 3° dendrites that fail to self-avoid and overgrow one another. Fig 3D Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
        Penetrance: Incomplete: Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00056964
                Curator_confirmed: WBPerson48777
        Phenotype_assay: Control_strain: WBStrain00047813 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Genotype: wdIs52 (pF49H12.4::GFP) Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
      WBPhenotype:0002490 Paper_evidence: WBPaper00032090
        Curator_confirmed: WBPerson712
        Remark: 3% ectopic axon branches emanated from axons that were not misguided (n=100) in progeny from homozygous parents, but was 0% in progeny from heterozygous hermaphrodites. Paper_evidence: WBPaper00032090
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006747 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
        Maternal
        Phenotype_assay: Treatment: Phenotypes were also scored for maternally rescued progeny. Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00032090
        Curator_confirmed: WBPerson712
        Remark: Animals are viable as homozygotes. Paper_evidence: WBPaper00032090
            Curator_confirmed: WBPerson712
      WBPhenotype:0000180 Paper_evidence: WBPaper00032090
        Curator_confirmed: WBPerson712
        Remark: 0% axons were prematurely terminated and thickened (n=100). Paper_evidence: WBPaper00032090
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006747 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Phenotypes were also scored for maternally rescued progeny. Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00040857
        Curator_confirmed: WBPerson712
        Remark: Mutants showed normal localization of SNB-1::VENUS in the RIA neuron. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
      WBPhenotype:0000905 Paper_evidence: WBPaper00032090
        Curator_confirmed: WBPerson712
        Remark: 0% cell bodies and axons displayed a spread morphology or ectopic lamellipodia/filopodia-like structure (n=100). Paper_evidence: WBPaper00032090
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006747 PATO:0000460 Paper_evidence: WBPaper00032090
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Phenotypes were also scored for maternally rescued progeny. Paper_evidence: WBPaper00032090
              Curator_confirmed: WBPerson712
      WBPhenotype:0001930 Paper_evidence: WBPaper00032907
        Curator_confirmed: WBPerson712
        Remark: Animals display similar numbers of dorsal and ventral muscle arms compared to control animals. Paper_evidence: WBPaper00032907
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040857
    WBPaper00032090
    WBPaper00032907
    WBPaper00048842
    WBPaper00056964
  Remark: Allele erroneously cited as gm423 Paper_evidence: WBPaper00048842
  Method: Deletion_allele