WormBase Tree Display for Variation: WBVar00090927

WBVar00090927 Evidence: Paper_evidence: WBPaper00003907
  Name: Public_name: nc4
    Other_name: H30A04.1a.2:c.345_612+177del
      H30A04.1b.1:c.345_612+177del
      H30A04.1a.1:c.345_612+177del
    HGVSg: CHROMOSOME_X:g.15517469_15518589del
  Sequence_details: SMap: S_parent: Sequence: H30A04
    Flanking_sequences: cgggctcgactgcacattcgagcacggagc aatgagcaaaaagctatgaactttcggatt
    Mapping_target: H30A04
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034469
    Laboratory: ST
    Status: Live
  Affects: Gene: WBGene00197018
      WBGene00001148
    Transcript: H30A04.2 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      H30A04.1a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H30A04.1a.2:c.345_612+177del
        cDNA_position: 497-?
        CDS_position: 345-?
        Protein_position: 115-?
        Intron_number: 6-8/16
        Exon_number: 6-8/17
      H30A04.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H30A04.1b.1:c.345_612+177del
        cDNA_position: 449-?
        CDS_position: 345-?
        Protein_position: 115-?
        Intron_number: 5-7/15
        Exon_number: 5-7/16
      H30A04.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H30A04.1a.1:c.345_612+177del
        cDNA_position: 447-?
        CDS_position: 345-?
        Protein_position: 115-?
        Intron_number: 5-7/15
        Exon_number: 5-7/16
  Genetics: Interpolated_map_position: X 22.811
    Mapping_data: In_multi_point: 4273
  Description: Phenotype: WBPhenotype:0000019 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Pumping rates were reduced about 15% from that observed for wild-type worms. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000103 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Gut granules were small and fewer in number. Animals showed only a slight increase in the intensity of intestinal autofluorescence, which mimicked the phenotype of starved wild-typed worms. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Brood size is 15% smaller than that of wild-type animals. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000293 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Animals had pale intestines. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
      WBPhenotype:0000335 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: The average time required for transferring a droplet of mineral oil from the anterior metacorpus to the posterior isthmus was significantly longer in these animals when compared to wild-type animals. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000547 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
      WBPhenotype:0001063 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited extended egg-laying periods. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000145 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: No abnormalities were observed for these mutants. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000520 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Animals showed no gross morphological defects. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000604 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Animals showed no gross morphological defects. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000618 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Coelomocytes were positioned correctly in comparison to control animals, further, coelomocytes retained DiI uptake ability. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: No abnormalities were observed for these mutants. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000650 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: No abnormalities were observed for these mutants. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000709 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Animals showed no gross morphological defects. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000710 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Although the pattern of gut autofluorescence was similar to starved worms, in regards to shape, the intestines in these worms were more similar to that of well-fed wild-type worms, as opposed to being shrunken like those of starved worms. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0000980 Paper_evidence: WBPaper00003907
        Curator_confirmed: WBPerson712
        Remark: Muscle contractions and activities of the pharynx appear to be normal and properly synchronized. Paper_evidence: WBPaper00003907
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00004883
    WBPaper00003907
  Method: Deletion_allele