WormBase Tree Display for Variation: WBVar00241110

WBVar00241110 Evidence: Paper_evidence: WBPaper00002046
  Name: Public_name: q420
    Other_name: Y73C8B.4.1:c.725-1G>A
    HGVSg: CHROMOSOME_V:g.3189356G>A
  Sequence_details: SMap: S_parent: Sequence: Y73C8B
    Flanking_sequences: agagtctagacatgagaatttgttttttca gcgccaaatgcttcccaaacggtccgaaag
    Mapping_target: Y73C8B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002046
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022546
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00002246
    Transcript: Y73C8B.4.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: Y73C8B.4.1:c.725-1G>A
        Intron_number: 3/4
    Interactor: WBInteraction000521259
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00002046
  Genetics: Interpolated_map_position: V -12.7104
  Description: Phenotype: WBPhenotype:0000081 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Larval arrest at L1. Weaker allele than q387. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000094 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: Anus is absent. A protrusion is present at the normal location of the anal opening Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 88 percent of L1 lethals lack both the excretory cell and rectum/anus. 12 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005364 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000117 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000315 Paper_evidence: WBPaper00038400
        Curator_confirmed: WBPerson712
        Remark: Animals had a lower arousal threshold to mechanosensory stimuli than control animals; animals responded more frequently to stimuli than control quiescent animals. Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00038400
              Curator_confirmed: WBPerson712
      WBPhenotype:0000412 Paper_evidence: WBPaper00038400
        Curator_confirmed: WBPerson712
        Remark: Animals were defective in their response to octanol at the restrictive temperature but responded normally when reared at the permissive temperature. Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00001966 Paper_evidence: WBPaper00038400
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00038400
              Curator_confirmed: WBPerson712
      WBPhenotype:0000621 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: There is no detectable excretory cell or excretory duct and a small protrusion is present at the normal location of the excretory pore. In some mutants, a duplicated structure near the excretory pore was observed using an antibody that recognizes epithelial belt desmosomes Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 88 percent of L1 lethals lack both the excretory cell and rectum/anus. 12 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005812 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
            WBbt:0005777 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: MH27 antibody staining Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000622 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: In the case of lag-2(q420), occasional animals were found in which there appeared to be an ectopic anal depressor muscle. Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Antibody staining to myosin heavy chain A Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000641 Paper_evidence: WBPaper00038400
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited increased basal locomotion activity, twice the number of body bends per minute than observed for control animals. Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00038400
              Curator_confirmed: WBPerson712
      WBPhenotype:0000857 Paper_evidence: WBPaper00039902
        Curator_confirmed: WBPerson43879
        Remark: Figure 5. Duct and G1 pore fail to stack, variable absence of canal cell Paper_evidence: WBPaper00039902
            Curator_confirmed: WBPerson43879
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00039902
            Curator_confirmed: WBPerson43879
      WBPhenotype:0001098 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: The rectum is undetectable Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 88 percent of L1 lethals lack both the excretory cell and rectum/anus. 12 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005773 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001099 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 2 percent of L1 lethals have a twisted nose Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001183 Paper_evidence: WBPaper00032310
        Curator_confirmed: WBPerson2987
        Remark: lag-2(q420ts) mutants showed a 50% decrease in fat storage (Figure 2G) Paper_evidence: WBPaper00032310
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001524 Paper_evidence: WBPaper00038400
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited increased L4/A quiescence compared to control animals. Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00038400
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00038400
              Curator_confirmed: WBPerson712
      WBPhenotype:0001586 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: Adults often possess a protruding vulva, which is associated with the production of two anchor cells Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001597 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: The anal depressor muscle and at least one intestinal muscle were absent. Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0004292 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
            WBbt:0005796 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Antibody staining to myosin heavy chain A Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000594 Paper_evidence: WBPaper00004662
        Curator_confirmed: WBPerson2987
        Remark: "We also observed the migration of P11/12 in a lag-2 mutant. LAG-2 is one of the four C_elegans homologs of the Delta protein, which is the ligand of Notch in Drosophila (Henderson et_al, 1994; Tax et_al, 1994). P11/12 migration is not clearly affected in this temperature-sensitive hypomorphic allele, although the bias in orientation may be reduced (Table 1C)." Paper_evidence: WBPaper00004662
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004409 PATO:0000460 Paper_evidence: WBPaper00004662
                Curator_confirmed: WBPerson2987
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00038400
    WBPaper00006052
    WBPaper00004883
    WBPaper00032310
    WBPaper00001423
    WBPaper00004662
    WBPaper00039902
  Method: Substitution_allele