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WormBase Tree Display for Variation: WBVar00249372

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Name Class

WBVar00249372NamePublic_nametm324
Other_nameF20C5.2a.1:c.1815_1938+148del
F20C5.11.2:c.-549_-426+148del
HGVSgCHROMOSOME_IV:g.8758672_8759033del
Sequence_detailsSMapS_parentSequenceF20C5
Flanking_sequencesaaaatgagaaaaggaacaactgaattggacaatggtgttgacgaattagaagaagttgat
Mapping_targetF20C5
Source_location7CHROMOSOME_IV87586718759034Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm324_external
tm324_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00036431
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq324
NBP_allele
StatusLive
AffectsGeneWBGene00303015
WBGene00002222
TranscriptF20C5.2a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF20C5.2a.1:c.1815_1938+148del
cDNA_position1885-?
CDS_position1815-?
Protein_position605-?
Intron_number10-11/14
Exon_number10-11/15
F20C5.11.2VEP_consequencesplice_acceptor_variant,splice_donor_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
HGVScF20C5.11.2:c.-549_-426+148del
cDNA_position1815-?
Intron_number9-10/19
Exon_number9-10/20
InteractorWBInteraction000052367
IsolationMutagenTMP/UV
GeneticsMapIV
Mapping_dataIn_multi_point4465
DescriptionPhenotypeWBPhenotype:0000615Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkCEM cilia adopt an inward trajectory, rather than an outward bend.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005246PATO:0000460Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0000649Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkSingle mutants exhibit slight but significant reduction of response and vulva location efficiencies.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkIn a stark contrast to wild type, all IFT mutants examined abnormally accumulate PKD-2::GFP in the ciliary base and in the cilium for those mutants with ciliary axonemes. | PKD-2 accumulation is observed at the ciliary base and along the ciliary membrane.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0000881Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. M.M. Barr to the National Bioresource Project of Japan: PKD-2::GFP localization: subtle ciliary mislocalization.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidencePT
WBPhenotype:0000884Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. P. Sengupta to the National Bioresource Project of Japan: 10% of animals fail to dye-fill one AWB neuron when grown at 25C. Other neurons dye-fill normally.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidencePY
PenetranceLowPerson_evidenceWBPerson7743
Curator_confirmedWBPerson712
Range1010Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005671PATO:0000460Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0001231Person_evidenceWBPerson563
Curator_confirmedWBPerson712
RemarkAcceleration of the rate of intraflagellar transport along the initial segment of amphid channel sensory cilia.Person_evidenceWBPerson563
Curator_confirmedWBPerson712
WBPhenotype:0004030Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkSingle mutants exhibit slight but significant reduction of response and vulva location efficiencies.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkClassified as 'homozygous viable' by the National Bioresource Project of Japan.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
WBPhenotype:0000625Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. K. Shen to the National Bioresource Project of Japan: normal synapse formation as determined by RAB-3 and CCB-1 localization to presynaptic sites in HSNL.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceTV
WBPhenotype:0000643Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. C. Bargmann to the National Bioresource Project of Japan: locomotion OK.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Dr. C. Bargmann: locomotion OK.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
Comment from Dr.C. Bargmann: locomotion OKPerson_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceTV
WBPhenotype:0000663Paper_evidenceWBPaper00024501
Curator_confirmedWBPerson712
WBPhenotype:0001225Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. H. Sawa: 0% Psa.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceTV
WBPhenotype:0002535Paper_evidenceWBPaper00024501
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. M.M. Barr to the National Bioresource Project of Japan: Dyf+.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidencePT
Based on normal dye filling.Paper_evidenceWBPaper00024501
Curator_confirmedWBPerson712
ReferenceWBPaper00024501
WBPaper00028448
WBPaper00029016
WBPaper00065813
Remark15970/15971-16332/16333 (362 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