WormBase Tree Display for Variation: WBVar00603895

WBVar00603895 Evidence: Paper_evidence: WBPaper00040002
  Name: Public_name: iv38
    Other_name (12)
    HGVSg: CHROMOSOME_V:g.11907714_11907715delinsAA
  Sequence_details: SMap: S_parent: Sequence: R31
    Flanking_sequences: aagctaaaagctctgaacttgaaacagctt agtgaattgaagaagcttctacgcttgaga
    Mapping_target: R31
    Type_of_mutation: Substitution: gg rr Paper_evidence: WBPaper00040002
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: GD
    Status: Live
  Affects: Gene: WBGene00004855
    Transcript: R31.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1e.1:c.5252_5253delinsAA
        HGVSp: CE52987:p.Trp1751Ter
        cDNA_position: 5252-5253
        CDS_position: 5252-5253
        Protein_position: 1751
        Exon_number: 8/17
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      R31.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1a.1:c.5252_5253delinsAA
        HGVSp: CE41581:p.Trp1751Ter
        cDNA_position: 5367-5368
        CDS_position: 5252-5253
        Protein_position: 1751
        Exon_number: 9/20
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      R31.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1c.1:c.4694_4695delinsAA
        HGVSp: CE46009:p.Trp1565Ter
        cDNA_position: 4694-4695
        CDS_position: 4694-4695
        Protein_position: 1565
        Exon_number: 5/15
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      R31.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1b.1:c.4943_4944delinsAA
        HGVSp: CE27773:p.Trp1648Ter
        cDNA_position: 4943-4944
        CDS_position: 4943-4944
        Protein_position: 1648
        Exon_number: 7/17
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      R31.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1d.1:c.4943_4944delinsAA
        HGVSp: CE46252:p.Trp1648Ter
        cDNA_position: 5185-5186
        CDS_position: 4943-4944
        Protein_position: 1648
        Exon_number: 8/18
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      R31.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1f.1:c.4694_4695delinsAA
        HGVSp: CE53064:p.Trp1565Ter
        cDNA_position: 4694-4695
        CDS_position: 4694-4695
        Protein_position: 1565
        Exon_number: 5/14
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: V 3.53953
  Description: Phenotype: WBPhenotype:0000229 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: iv38 homozygotes are smaller (Sma) than wild-typeanimals of the same developmental stage Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: iv38 homozygotes are somewhat dumpy (Dpy) in appearance. Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
      WBPhenotype:0000709 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: mean pharynx length is significantly smaller than that of N2 Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
      WBPhenotype:0000901 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: animals had abnormal morphology of the gland extensions; iv38 have normal gland cell bodies and all glands appear to connect with the pharyngeal lumen at their normal positions. However, the gland projections have a variety of abnormalities, including additional branching, swelling and thickening, and abnormal trajectories; the gland phenotype becomes progressively more severe as animals develop; gland projection in sma-1 animals is considerably overgrown compared with wild type; the cross-sectional area of the g1P projection is 2.5-fold larger in sma-1 compared to WT Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005788 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000946 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: the pharyngeal neuron I3 (which lies in direct contact with the anterior portion of the g1P projection) appears normal in iv38 animals. Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004742 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: iv37 animals had wild-type numbers of expressing cells Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005788 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
  Reference: WBPaper00040002
  Method: Substitution_allele