WormBase Tree Display for Variation: WBVar00146526

WBVar00146526 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h293
    Other_name: C55B7.9b.1:c.405+1G>A
      C55B7.9a.3:c.588+1G>A
      C55B7.9a.2:c.588+1G>A
      C55B7.9a.1:c.588+1G>A
    HGVSg: CHROMOSOME_I:g.6493044C>T
  Sequence_details: SMap: S_parent: Sequence: C55B7
    Flanking_sequences: AGTTGAAAAAATAAATTCGAAATTATTACTAAAAAACCTA CGGCATGTATTCTGCAGACTCGGGCAATGAGATACTGATT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 6493046 6493046
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023756
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00007018
    Transcript: C55B7.9a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: C55B7.9a.1:c.588+1G>A
        Intron_number: 6/7
      C55B7.9a.3 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: C55B7.9a.3:c.588+1G>A
        Intron_number: 8/9
      C55B7.9b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: C55B7.9b.1:c.405+1G>A
        Intron_number: 5/6
      C55B7.9a.2 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: C55B7.9a.2:c.588+1G>A
        Intron_number: 7/8
  Genetics: Interpolated_map_position: I 1.15731
    Mapping_data: In_2_point: 5230
        5231
      In_pos_neg_data (14)
  Description: Phenotype: WBPhenotype:0000052 Paper_evidence: WBPaper00002829
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002829
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002829
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00040589
        Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00003985
          WBPaper00002829
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: sterile adult mutants had a normal life-span of two to three weeks and grew to the expected size for Unc-13 adults (0.6+/-0.8 mm); homozygotes for let-604(h293) showed gamete differentiation in the loop region, with oocytes and fertilized eggs in the proximal region. However, the eggs did not develop past gastrulation, since no signs ofmorphogenesis were visible; none of the eggs were laid, and they became necrotic within the gonad Paper_evidence: WBPaper00002829
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002829
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000324 Paper_evidence: WBPaper00002829
        Curator_confirmed: WBPerson712
        Remark: Animals bearing the other allele of let-604, h293, grew to the full length expected for an adult. Paper_evidence: WBPaper00002829
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002829
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
      WBPhenotype:0000670 Paper_evidence: WBPaper00002829
        Curator_confirmed: WBPerson712
        Remark: none of the sterile mutants were rescued by wild-type sperm, thereforenone of them had defects in spermatogenesis alone. Paper_evidence: WBPaper00002829
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002829
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
  Reference: WBPaper00040589
    WBPaper00002829
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: Substitution_allele