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WormBase Tree Display for Variation: WBVar00250905

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Name Class

WBVar00250905NamePublic_nametm1944
Other_namePAR2.3b.1:c.-674-25_-82del
PAR2.3a.1:c.119-25_445-13del
HGVSgCHROMOSOME_III:g.8759976_8760593del
Sequence_detailsSMapS_parentSequencePAR2
Flanking_sequencesaagaagattttcgggcttctaaaattgatatttgagctgtagatttctcgtttttttggc
Mapping_targetPAR2
Source_location7CHROMOSOME_III87599758760594Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm1944_external
tm1944_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00047359
WBStrain00056770
LaboratoryFX
EN
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq1944
NBP_allele
StatusLive
AffectsGeneWBGene00019801
TranscriptPAR2.3b.1VEP_consequencesplice_acceptor_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
HGVScPAR2.3b.1:c.-674-25_-82del
cDNA_position?-752
Intron_number1/9
Exon_number2/10
PAR2.3a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScPAR2.3a.1:c.119-25_445-13del
Intron_number2-3/10
Exon_number3/11
Interactor (29)
IsolationMutagenTMP/UV
GeneticsMapIII
Mapping_dataIn_multi_point5287
DescriptionPhenotypeWBPhenotype:0000018Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Remarkaak-1(tm1944) mutants exhibited an increased pharyngeal pumping rate (Figure 2A)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000147Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment to the National Bioresource Project of Japan from: Dr. L. Avery: mildly sensitive to long-term starvation (e.g. 15 days of starvation as L1).Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
WBPhenotype:0001183Paper_evidenceWBPaper00045710
WBPaper00045372
Curator_confirmedWBPerson2987
RemarkThe aak-1(tm1944) mutation resulted in reduced fat content under fasting conditions, as determined by Oil Red O staining (Figure 4D,E)Paper_evidenceWBPaper00045710
Curator_confirmedWBPerson2987
aak-1(tm1944) mutants exhibited reduced fat content compared to controls (Figure 2C)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0002276Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remarkaak-1(tm1944);aak-2(ok524);daf-2(e1370) triple mutant animals exhibited a significantly reduced dauer life span compared to control aak-2(ok524);daf-2(e1370) double mutant animals (Table 1)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentC. elegans were synchronized and plated at 25 degrees Celsius. Three days later, ~10 dauer larvae were randomly picked into a 20 microliter drop of double-distilled water suspended under a Petri dish cover. A wet tissue was placed in the bottom of the dish to maintain humidity, and the plate was sealed with Parafilm. Dauer longevity was monitored daily, and survival was scored as moving response upon exposure to a focused beam of 425-440 nm light.Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Temperature25Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Genotypedaf-2(e1370); aak-2(ok524)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
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:0000462Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson712
RemarkParaquat hypersensitivity was not observed in the aak-1(tm1944) deletion mutantPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00002747Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson712
WBPhenotype:0000848Paper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
RemarkFigure S4dPaper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
WBPhenotype:0001182Paper_evidenceWBPaper00038218
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPerson2987
RemarkComment to the National Bioresource Project of Japan from: Dr. K. Ashrafi: normal Nile Red staining.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
Figure 4a,bPaper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
The aak-1(tm1944) mutation had no effect on the fat-reducing capability of AICARPaper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00005453Paper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFat content of animals was assessed by Nile Red stainingPaper_evidenceWBPaper00038218
Curator_confirmedWBPerson2987
WBPhenotype:0001540Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remarkaak-1(tm1944);daf-2(e1370) double mutant animals did not exhibit a significantly reduced dauer life span compared to control daf-2(e1370) mutant animals (Table 1)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentC. elegans were synchronized and plated at 25 degrees Celsius. Three days later, ~10 dauer larvae were randomly picked into a 20 microliter drop of double-distilled water suspended under a Petri dish cover. A wet tissue was placed in the bottom of the dish to maintain humidity, and the plate was sealed with Parafilm. Dauer longevity was monitored daily, and survival was scored as moving response upon exposure to a focused beam of 425-440 nm light.Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Temperature25Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Genotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
ReferenceWBPaper00038218
WBPaper00031692
WBPaper00032396
WBPaper00045372
WBPaper00045710
WBPaper00065265
WBPaper00066013
Remark5139/5140-5757/5758 (618 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