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WormBase Tree Display for Variation: WBVar00092591

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Name Class

WBVar00092591EvidencePaper_evidenceWBPaper00031859
Person_evidenceWBPerson59652
NamePublic_nameok1372
Other_nameC30A5.2.1:c.53_*3+391del
Rearrangement
HGVSgCHROMOSOME_III:g.8226554_8227823del
Sequence_detailsSMapS_parentSequenceC02F5
Flanking_sequencestcaaatacgaaactgcctacgatcttctggtcgtcgttgcccatttcgccgtgtggaaga
Mapping_targetC30A5
Type_of_mutationDeletion
PCR_productOK1372_external
OK1372_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031979
WBStrain00048305
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00004342
TranscriptC30A5.2.2VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
VEP_impactHIGH
cDNA_position77-?
CDS_position53-?
Protein_position18-?
Intron_number2-4/5
Exon_number2-6/6
C30A5.2.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
VEP_impactHIGH
HGVScC30A5.2.1:c.53_*3+391del
cDNA_position77-?
CDS_position53-?
Protein_position18-?
Intron_number2-6/6
Exon_number2-6/7
IsolationMutagenUV/TMP
GeneticsInterpolated_map_positionIII-0.356853
Mapping_dataIn_multi_point4934
DescriptionPhenotypeWBPhenotype:0000000Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkPrior to the onset of sterility, greater than 95% of animals exhibited chromatin bridges, large agglomerates of genetic material in developing eggs and aberrant numbers of DAPI staining bodies at diakinesis. In stabilized lines, where sterility was not observed, DAPI staining bodies were also aberrant in number and size suggestive of the presence of chromosome fragments and chromosome fusions.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0000145Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkPopulations exhibited fluctuations in brood size from generation to generation. Lines were shown to transition rapidly from fully fertile to sterile, while others showed a slow decline, remaining sub-fertile for many generations. In some cases transitions would occur from low to high to low fecundity, showing a 'rescue' in fecundity.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0000879Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkTelomeres appeared slightly longer than in wild-type, as assayed by Southern blot, although they were observed to experience a shortening of ~75 bp per generation compared to no shortening in wild-type animals. Loss of telomere length occurred well before loss of fecundity.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0000894Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkPrior to the onset of sterility, although the germlines are usually full of eggs and sperm, 15% of animals exhibited aberrantly sized sperm, prematurely cellularized nuclei, decreased numbers of pachytene nuclei, and in rare animals (5%), a complete loss of germline nuclei. In addition, accumulation of unlaid eggs were seen.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0000966Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkFecundity dropped (brood sizes decreased and sterile animals arose) as animals were serially passaged (sterility was reached after 20 generations) . The Mrt phenotype was attenuated by passaging in the presence of excess food, although sterility was still observed in the population within 16 generations.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were grown for 1 week on a small agar plate with a lawn of E. coli OP50 as food, experiencing starvation in between passages.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0001175Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkMale production (2.2%) was increased compared to N2 (0.06%).Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0001388Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkAnimals exhibit a significantly reduced hatching rate compared to N2 animals after exposure to ionizing radiation.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were treated with increasing doses of IR.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkHatch rate is not severely decreased compared to N2.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0000228Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkDpy, Unc, Rol animals that cropped up in later generations, did not breed true and were deemed likely to be due to somatic mutation or transient genome instability rather than germline changes.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0001222Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkNo difference was observed in reversion rate of unc-58(e665) compared to wild type.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
Phenotype_assayGenotypeunc-58(e665)Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
WBPhenotype:0001795Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
RemarkRepeat lengths from three microsatellite loci showed no changes from generation to generation.Paper_evidenceWBPaper00031859
Curator_confirmedWBPerson712
ReferenceWBPaper00031859
WBPaper00060301
Remark[210303 skd] Primers and PCR conditions for genotyping are provided in Table S5 in WBPaper00060301Paper_evidenceWBPaper00060301
Curator_confirmedWBPerson51134
Sanger sequencing data is available upon request if needed for independent verificationPerson_evidenceWBPerson59652
Curator_confirmedWBPerson51134
alt_det = 1270 bp deletion, which starts in the middle of exon 1 and removes all other exons.Person_evidenceWBPerson59652
Curator_confirmedWBPerson51134
Variation information submitted by WBPerson59652 on 2023-08-3_11:10:07 via the Allele submission form.Curator_confirmedWBPerson51134
MethodDeletion_allele