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WormBase Tree Display for Variation: WBVar00249300

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Name Class

WBVar00249300NamePublic_nametm246
Other_nameC44C1.4.1:c.-84_482del
HGVSgCHROMOSOME_X:g.973659_974836del
Sequence_detailsSMapS_parentSequenceC44C1
Flanking_sequencesaactgcaacaatagcgcaataattccgcaccgtctctgtcaccgcgtcgggtgagtgtcc
Mapping_targetC44C1
Source_location7CHROMOSOME_X973658974837Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm246_external
tm246_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq246
NBP_allele
StatusLive
AffectsGeneWBGene00171379
WBGene00016643
TranscriptC44C1.4.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,start_lost,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
HGVScC44C1.4.1:c.-84_482del
cDNA_position13-578
CDS_position?-482
Protein_position?-161
Intron_number2-4/12
Exon_number1-5/13
C44C1.13
IsolationMutagenTMP/UV
GeneticsMapX
DescriptionPhenotypeWBPhenotype:0000054Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkClassified as maternal effect larval lethal by the National Bioresource Project of Japan. Comment to NBP from Dr. S. Mitani: EMBOR 8, 152 (2007). Comment to NBP from Dr. S. L'Hernault: could not recover.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
SL
MaternalWith_maternal_effectPerson_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000638Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkArrested larvae were often encased in the old cuticle.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0000710Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkIntestines of arrested larva showed enlarged lumens and accumulation of large refractile granules, thought to be lysosome-related organelles. In addition, multilamellar bodies (MBLs) were observed in the intestines by electron microscopy.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBbt:0005791PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0000911Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkCoelomocytes contained aberrantly small RME-8/GFP vesicles, which accumulated in the peripheral regions. Results were repeated with another endosomal marker containing 2 x FYVE domain.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayGenotypeRME-8/GFPPaper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0001015Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkA shift to a higher temperature at any stage resulted in developmental arrest.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0001425Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkThe vitellogenin::EGFP reporter (YP170/EGFP) was not endocytosed by oocytes at 25C.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Genotypevitellogenin::EGFP (YP170/EGFP)Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkPmyo-3::ssGFP, secreted by muscle cells, was not taken up by coelomocytes and instead accumulated in the pseudocoelom.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005751PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
GenotypePmyo-3::ssGFPPaper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
WBPhenotype:0001754Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkTexas Red-BSA remained in RME-8-positive endosomes in vps-45 mutant coelomocytes at 30 min after TR-BSA injection, in contrast to TR-BSA reaching lysosomal-associated membrane protein ortholog (LMP-1)/GFP-labeled compartments at 45 min in control animals.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005751PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
GO_termGO:0008333PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were injected with Texas-Red-conjugated BSA.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature15, 25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
GenotypeRME-8/GFP, LMP-1/GFPPaper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000103Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. G. Hermann to the National Bioresource Project of Japan: WT gut granules.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceGH
WBPhenotype:0000706Paper_evidenceWBPaper00025094
Curator_confirmedWBPerson2021
RemarkMutations did not result in Glo phenotypesPaper_evidenceWBPaper00025094
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00025094
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00025094
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentStaining with LysoTracker Red and acridine orangePaper_evidenceWBPaper00025094
Curator_confirmedWBPerson2021
WBPhenotype:0002562Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
RemarkThere was no obvious reduction in the size of the LMP-1/GFP-labelled lysosomes.Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
EQ_annotationsGO_termGO:0007040PATO:0000460Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Phenotype_assayGenotypeLMP-1/GFPPaper_evidenceWBPaper00029049
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:0112132
Models_disease_in_annotationWBDOannot00001370
ReferenceWBPaper00025094
WBPaper00029049
Remark15824/15825-17002/17003 (1178 bp deletion)
This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use.Paper_evidenceWBPaper00041807
MethodNBP_knockout_allele