WormBase Tree Display for Variation: WBVar00249131

WBVar00249131 Evidence: Paper_evidence: WBPaper00003656
  Name: Public_name: t1534
    Other_name (12)
    HGVSg: CHROMOSOME_III:g.13722409G>A
  Sequence_details: SMap: S_parent: Sequence: W06F12
    Flanking_sequences: gaccaacgtgaccggctcaacatgacacac aggttgtgacccagtactatagagccccgg
    Mapping_target: W06F12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003656
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007769
    Laboratory: GE
    Status: Live
  Affects (3)
  Genetics: Interpolated_map_position: III 21.4035
  Description: Phenotype: WBPhenotype:0000052 Paper_evidence: WBPaper00002946
          WBPaper00003363
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: From a collection of maternal-effect embryonic lethal mutations isolated on LG III (R. Schnabel, H. Schnabel, R. Feichtinger and T. Kaletta, unpublished results). Paper_evidence: WBPaper00003363
            Curator_confirmed: WBPerson712
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00003363
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C, 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Genotype: unc-32(e189) Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000472 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: Less than 5% of embryos have no endoderm. This phenotype is rescued by [GFP::LIT-1]. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 22 deg C Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
      WBPhenotype:0001276 Paper_evidence: WBPaper00003363
        Curator_confirmed: WBPerson712
        Remark: Mutants yielded ectopic expression in some AB-derived blastomeres, but never all of them, showing expression not seen in a wild-type genetic background. Beta-Galactosidase staining is still observed in cells where expression is detected in the control strain. Paper_evidence: WBPaper00003363
            Curator_confirmed: WBPerson712
      WBPhenotype:0001597 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: 36 body-wall muscle cells are missing. Both MS and C-blastomere lineages are affected Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Maternal
        Phenotype_assay: Treatment: Staining with NE8 4C6.3 antibody Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001635 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Maternal
        Phenotype_assay: Treatment: Staining with 3NB12 antibody Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001968 Paper_evidence: WBPaper00005116
        Curator_confirmed: WBPerson2987
        Remark: Table 4 Paper_evidence: WBPaper00005116
            Curator_confirmed: WBPerson2987
      WBPhenotype:0002213 Paper_evidence: WBPaper00003656
        Curator_confirmed: WBPerson2987
        Remark: The "THK" mutant LIT-1 protein encoded by the lit-1(t1534) allele exhibited reduced phosphorylation of the proteins POP-1, LIT-1, and WRM-1. Paper_evidence: WBPaper00003656
            Curator_confirmed: WBPerson2987
  Reference: WBPaper00003363
    WBPaper00003570
    WBPaper00005116
    WBPaper00003656
    WBPaper00002946
  Method: Substitution_allele