WormBase Tree Display for Variation: WBVar00145034

WBVar00145034 Evidence: Paper_evidence: WBPaper00031667
  Name: Public_name: e2887
    Other_name: CE54583:p.Gly333Asp
      CE28488:p.Gly319Asp
      T23F2.1b.1:c.998G>A
      T23F2.1a.1:c.956G>A
    HGVSg: CHROMOSOME_X:g.5494994G>A
  Sequence_details: SMap: S_parent: Sequence: T23F2
    Flanking_sequences: gaagaccggttattgtctgtgatagtggag cccagctgaaaccgtcttggaagatatta
    Mapping_target: T23F2
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00031667
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004685
      WBStrain00004686
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00044623
    Transcript: T23F2.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: T23F2.1b.1:c.998G>A
        HGVSp: CE54583:p.Gly333Asp
        cDNA_position: 998
        CDS_position: 998
        Protein_position: 333
        Exon_number: 7/9
        Codon_change: gGc/gAc
        Amino_acid_change: G/D
      T23F2.1a.1 (12)
  Genetics: Interpolated_map_position: X -5.24078
  Description: Phenotype: WBPhenotype:0000010 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Animals show strongly enhanced sensitivity to drugs of a variety of sizes and structures. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Gravid hermaphrodites were placed into wells (of 96-well plates) containing the compound. Sensitivity was assessed based on the time until paralysis ensued. Concentrations of the compounds are as follows: Nicotine, 0.1%v/v in M9; 1-Phenoxypropan-2-ol , 0.1% or 0.5% in M9; Ivermectin dissolved in DMSO and diluted to 2.5ug/ml in M9. Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
      WBPhenotype:0000050 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Some embryonic lethality is observed. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
      WBPhenotype:0000054 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Postembryonic escapers completely arrest at the larval stage at the non-permissive temperature (15C). Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 22.5, 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
      WBPhenotype:0000523 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Animals show increased permeability to the dye Hoechst 33258. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Hoechst 33258 staining was as described in Moribe et al 2004. Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
      WBPhenotype:0000638 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Molting defects are observed, such as body restriction points, due to incomplete cuticle shedding. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 22.5, 15 Paper_evidence: WBPaper00031667
              Curator_confirmed: WBPerson712
      WBPhenotype:0000899 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Epithelial cell layer between the cuticle and body wall muscle is disorganized, vacuolated and much wider than in wild-type, as visualized by electron microscopy. More specifically the fibrous organelles are disordered. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
      WBPhenotype:0001209 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Animals are severly Unc. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
      WBPhenotype:0001413 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000025 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: Despite defects in the epithelial layer between the cuticle and muscle, animals are not blistered. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
      WBPhenotype:0000948 Paper_evidence: WBPaper00031667
        Curator_confirmed: WBPerson712
        Remark: The cuticle is grossly normal. Paper_evidence: WBPaper00031667
            Curator_confirmed: WBPerson712
  Reference: WBPaper00031667
  Method: Substitution_allele