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WormBase Tree Display for Variation: WBVar00146101

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Name Class

WBVar00146101NamePublic_namegk794
Other_nameK06A1.1.1:c.275_713-52delinsCAATTCACAACAGTTCTTCA
HGVSgCHROMOSOME_II:g.6455296_6455950delinsCAATTCACAACAGTTCTTCA
Sequence_detailsSMapS_parentSequenceK06A1
Flanking_sequencescagtgagcaattcacaacagttcttcaatgattaacgctccataacgctcgtacttgtca
Mapping_targetK06A1
Type_of_mutationInsertionCAATTCACAACAGTTCTTCA
Deletion
PCR_productgk794_external
gk794_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00008308
WBStrain00036781
LaboratoryVC
PersonWBPerson427
KO_consortium_allele
StatusLive
AffectsGeneWBGene00019424
TranscriptK06A1.1.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScK06A1.1.1:c.275_713-52delinsCAATTCACAACAGTTCTTCA
cDNA_position278-?
CDS_position275-?
Protein_position92-?
Intron_number3-5/7
Exon_number3-5/8
IsolationMutagenUV/TMP
DescriptionPhenotypeWBPhenotype:0000137Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Remark"flp-11, a neuropeptide gene, was strongly downregulated in aptf-1 mutant worms in both embryos and larvae (Figure 2A, Supplementary file 1, Table 1A and 1B)"Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
WBls:0000038PATO:0000460Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
WBPhenotype:0000306Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Remark"flp-11 was expressed strongly in RIS and faintly in a few additional neurons. Expression was abolished or greatly reduced in RIS in aptf-1 mutant worms (Figure 2B, Figure 2-figure supplement 3)"; "Expression of mouse tfap2beta also partially restored the expression of flp-11 in aptf-1 mutant worms (Figure 2F, Figure2-figure supplement 4)"Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Rescued_by_transgeneWBTransgene00022999
EQ_annotationsAnatomy_termWBbt:0005045PATO:0000460Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Phenotype_assayGenotypegoeIs288[pflp-11::mKate2::unc-54 3'UTR, unc-119(+)]Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
WBPhenotype:0001524Paper_evidenceWBPaper00049336
WBPaper00057148
Curator_confirmedWBPerson38423
WBPerson712
Remarkaptf-1(gk794) mutant worms did not show normal nose immobility during quiescence as in wild type controls.; "Nose speed measurements during sleep showed that tfap2beta expression partially restored immobility (Figure 2D,E)"; "Whereas aptf-1 mutants without the transgene did not show any detectable immobility, the flp-11 transgene partially restored immobility (Figure 3A)"Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
these RIS-defective animals were strikingly defective in head movement quiescence and also showed rocking movements: alternating backward and forward body movements, each resulting in less than a half-body translation of the worm's position and virtually no net movement in either direction.Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
Rescued_by_transgeneWBTransgene00022999
WBTransgene00023003
Phenotype_not_observedWBPhenotype:0000306Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Remark"aptf-1 did not control the expression of unc-25 (Figure 1D)"Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
"aptf-1 did not control the expression of the vesicular GABA transporter gene unc-47 (figure supplement 1B)"Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
EQ_annotationsAnatomy_termWBbt:0005045PATO:0000460Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
Phenotype_assayGenotypejuIs8[pSC382(unc-25::GFP)]Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
oxIs12 [unc-47p::GFP+lin-15(+)]Paper_evidenceWBPaper00049336
Curator_confirmedWBPerson38423
WBPhenotype:0001524Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
Remarkaptf-1(lf) mutants greatly reduced their frequency of body bends during lethargus to a level similar to that of N2 controls.Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
WBPhenotype:0002432Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
RemarkIn contrast to ALA-defective animals, aptf-1(lf) mutants showed wild type body-bend quiescence during SIS; SIS body movement quiescence in aptf-1(lf) was similar to wild type, but took longer to set in in the case of UV-SIS (G). Body mobility was defined as a translation of the body position by at least 1/10 body length.Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
We examined the behavior of aptf-1(lf) animals during SIS triggered by ultraviolet light (C) and by ingestion of pore-forming Cry5B toxin (D). As in lethargus, RIS-defective animals showed head movement, but they did not rock back and forth as they did during lethargus. Head mobility was defined as any discernible movement. Though head movement is often referred to as foraging behavior, we did not observe any feeding (pharyngeal pumping) in aptf-1 mutants in these assays.Paper_evidenceWBPaper00057148
Curator_confirmedWBPerson712
ReferenceWBPaper00049336
WBPaper00057148
WBPaper00064927
WBPaper00066004
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele