WormBase Tree Display for Variation: WBVar00275424

WBVar00275424 Evidence: Paper_evidence: WBPaper00029072
  Name: Public_name: yn10
    Other_name: CE04209:p.Arg174IlefsTer49
      CE27845:p.Arg174IlefsTer49
      C42D8.8a.1:c.519_1876del
      C42D8.8b.1:c.519_1870del
    HGVSg: CHROMOSOME_X:g.5113285_5115215del
  Sequence_details: SMap: S_parent: Sequence: C42D8
    Flanking_sequences: gaagtccaagggcaacaaggatatgattgt catcggcgatgttcatcaccgctatctgca
    Mapping_target: C42D8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: NY
    Status: Live
  Affects: Gene: WBGene00000149
    Transcript: C42D8.8b.1 (11)
      C42D8.8a.1 (11)
  Genetics: Interpolated_map_position: X -6.18002
  Description: Phenotype: WBPhenotype:0000035 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Remark: Few L1 animals had large gaps between organs (eg:, gaps between the gonad and overlying intestine) Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000054 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000638 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Remark: The mutants synthesized a new L2 cuticle but failed to shed their old L1 cuticle Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000793 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Remark: Posterior organs did not develop and the midregion ends abruptly Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001395 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Remark: Mutants accumulate variously sized vacuoles that appeared to be within the large syncytial hypodermal cells Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005733 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000604 Paper_evidence: WBPaper00029072
        Curator_confirmed: WBPerson2021
        Remark: The nervous system of L1 mutants appeared normal and axon bundles were correctly positioned Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00029072
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00029072
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00029072
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001006 Paper_evidence: WBPaper00040923
        Curator_confirmed: WBPerson5092
        Remark: yn10/+ animals exhibit the same pharyngeal pumping rate compared to N2 at L1. Paper_evidence: WBPaper00040923
            Curator_confirmed: WBPerson5092
  Disease_info: Models_disease: DOID:10652
    Models_disease_in_annotation: WBDOannot00000631
  Reference: WBPaper00040923
    WBPaper00029072
  Remark: WBPaper00029072 describes the location of this allele based on the gene structure in WBPaper00001858. The gene structure has since been updated. Curator_confirmed: WBPerson2970
  Method: Deletion_allele