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WormBase Tree Display for Variation: WBVar00249442

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Name Class

WBVar00249442NamePublic_nametm394
Other_nameC56A3.7b.1:c.162_370-130delinsA
C56A3.7a.1:c.258_466-130delinsA
C56A3.7d.1:c.73-72_256-130delinsA
HGVSgCHROMOSOME_V:g.13557503_13558341delinsA
Sequence_detailsSMapS_parentSequenceC56A3
Flanking_sequencestcaagaagtaccaactcctcagagacgtagaaaacaaagaaaaacacttagtgttatcaa
Mapping_targetC56A3
Source_location7CHROMOSOME_V1355750213558342Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationInsertionA
Deletion
PCR_producttm394_external
tm394_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq394
NBP_allele
StatusLive
AffectsGeneWBGene00000302
TranscriptC56A3.7a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScC56A3.7a.1:c.258_466-130delinsA
cDNA_position314-?
CDS_position258-?
Protein_position86-?
Intron_number4-6/11
Exon_number4-6/12
C56A3.7d.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScC56A3.7d.1:c.73-72_256-130delinsA
Intron_number1-3/7
Exon_number2-3/8
C56A3.7b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScC56A3.7b.1:c.162_370-130delinsA
cDNA_position162-?
CDS_position162-?
Protein_position54-?
Intron_number2-4/8
Exon_number2-4/9
InteractorWBInteraction000525135
WBInteraction000525136
IsolationMutagenTMP/UV
GeneticsMapV
Mapping_dataIn_multi_point4176
DescriptionPhenotypeWBPhenotype:0000026Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. Dr. H. Baylis: defective lipid uptake in inetstine, alteration in endocytosis, slightly reduced brood size,Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceAA
WBPhenotype:0000154Paper_evidenceWBPaper00046406
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPerson2987
RemarkComment from Dr. H. Baylis to the National Bioresource Project of Japan: slightly reduced brood size.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Comment from Dr. Dr. H. Baylis: defective lipid uptake in inetstine, alteration in endocytosis, slightly reduced brood size,Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceAA
cav-2(tm394) mutants have a slight but reproducible reduction in brood size (N2: 315 +/- 8; cav-2(tm394): 284 +/- 28; mean +/- SD).Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
WBPhenotype:0000338Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
RemarkFigure 6A,BPaper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
WBPhenotype:0000673Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. H. Baylis to National Bioresource Project of Japan: slightly reduced brood size.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
Remarkcav-2(tm394) mutant worms exhibit increased and punctate accumulations of YP-170::GFP (VIT-2::GFP) in the pseudocoelom and tail (Figure 6A,6E). Levels of YP-170::GFP in the intestine appeared normal but less localized to the basolateral membrane compared with wild type.Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeYP-170::GFP (VIT-2::GFP)Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
WBPhenotype:0000725Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. H. Baylis to National Bioresource Project of Japan: defective lipid uptake in inestine.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Comment from Dr. H. Baylis to the National Bioresource Project of Japan: defective lipid uptake in intestine.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0001421Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. H. Baylis to National Bioresource Project of Japan: alteration in endocytosis.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Comment from Dr. H. Baylis to the National Bioresource Project of Japan: alteration in endocytosis.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Comment from Dr. Dr. H. Baylis: defective lipid uptake in inetstine, alteration in endocytosis, slightly reduced brood size,Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceAA
EQ_annotationsAnatomy_termWBbt:0005772PATO:0000460Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0001763Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
Remarkcav-2(tm394) mutant animals exhibited reduced apical uptake of the lipid-phase marker dye FM4-64 and BODIPY-tagged lactosylceramide (BODIPY FL C5 LacCer, Invitrogen) into intestinal cells, compared to wild type controls (Figures 2,3)Paper_evidenceWBPaper00046406
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00020904
WBTransgene00020905
Phenotype_not_observed (14)
ReferenceWBPaper00028448
WBPaper00046406
Remark31168/31169-A-32007/32008 (839 bp deletion + 1 bp addition)
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