WormBase Tree Display for Variation: WBVar00089237

WBVar00089237 Evidence: Paper_evidence: WBPaper00004710
  Name: Public_name: mu220
    Other_name: T01E8.2.1:c.71G>A
      CE02306:p.Arg24Gln
    HGVSg: CHROMOSOME_II:g.10218543G>A
  Sequence_details: SMap: S_parent: Sequence: T01E8
    Flanking_sequences: acagaaaaacatcacaggagaagaaacgac agatgagattaatgcaaagatcaaggagct
    Mapping_target: T01E8
    Type_of_mutation: Substitution: G A Paper_evidence: WBPaper00004710
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004843
    Laboratory: CF
    Status: Live
  Affects: Gene: WBGene00004334
    Transcript: T01E8.2.1 (12)
    Interactor (12)
  Genetics: Interpolated_map_position: II 2.25321
    Mapping_data: In_multi_point: 4630
  Description: Phenotype: WBPhenotype:0000071 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: ref-1(mu220) larvae occasionally have misshapen heads. These head defects vary considerably, ranging from small notches or lumps in the side of the worm head to strongly bent heads. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
      WBPhenotype:0000166 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: ref-1 mutant animals stained with the MH27 antiserum show the H1 seam cell occasionally fused inappropriately with either hyp7 or another head syncytial cell. Posterior seam cells did not display any defects in newly hatched ref-1(mu220) mutants, a defect was present later in development in the posteriorly located V6 cell. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
      WBPhenotype:0000239 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: Anterior Pn.p cells (P1.p and P2.p) and other lateral hypodermal cell fusions in the worm were largely unaffected, suggesting that this mutation affects the pattern of Pn.p cell fusion and not cell fusion more generally. ref-1 also did not affect the male Pn.p cell fusion pattern (datanot shown). ref-1 specifically affects Pn.p cell fusionearly but not later during larval development. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004710
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
      WBPhenotype:0000414 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: At low frequency in ref-1(mu220) worms, V6 generates a postdeirid-like structure indicating a partial transformation of V6 to V5. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004875 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
            WBbt:0004890 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
      WBPhenotype:0000700 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: ref-1(mu220) frequently had between one and three ectopic pseudovulvae in the posterior body region. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004710
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
      WBPhenotype:0000938 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: ref-1 mutants occasionally lack two V-cell-derived rays. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
      WBPhenotype:0001194 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: The ectopic postdeirid phenotype was only about 10% penetrant in a strain that was outcrossed three times. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Penetrance: Low: 10% Paper_evidence: WBPaper00004710
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004710
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006747 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
            WBbt:0004875 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
            WBbt:0004874 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
      WBPhenotype:0001412 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: Small gaps were sometimes seen in the alae in the V6 body region in ref-1 mutants. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007832 PATO:0000460 Paper_evidence: WBPaper00004710
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000717 Paper_evidence: WBPaper00004710
        Curator_confirmed: WBPerson712
        Remark: Little or no detectable difference was observed in lin-39 expression between wild-type and ref-1(mu220) animals. Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00004710
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004710
            Curator_confirmed: WBPerson712
  Reference: WBPaper00027236
    WBPaper00004710
    WBPaper00017746
  Method: Substitution_allele