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WormBase Tree Display for Variation: WBVar00143951

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Name Class

WBVar00143951EvidencePaper_evidenceWBPaper00004623
NamePublic_namee1372
Other_nameB0412.2.1:c.369+1G>A
HGVSgCHROMOSOME_III:g.812434G>A
Sequence_detailsSMapS_parentSequenceB0412
Flanking_sequencesaatgatttggaaagaagcgatattcttcagtatcgtttggtttttttttaaaaagaatcc
Mapping_targetB0412
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00004623
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000063
WBStrain00004310
WBStrain00005597
WBStrain00006202
WBStrain00006360
WBStrain00022755
WBStrain00023548
WBStrain00026329
WBStrain00026330
WBStrain00026331
WBStrain00035147
WBStrain00035150
WBStrain00050822
WBStrain00050823
WBStrain00050824
WBStrain00050825
WBStrain00050852
WBStrain00051573
LaboratoryCB
StatusLive
AffectsGeneWBGene00000903
TranscriptB0412.2.1VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScB0412.2.1:c.369+1G>A
Intron_number3/6
Interactor (86)
IsolationMutagenEMSPaper_evidenceWBPaper00004623
GeneticsInterpolated_map_positionIII-25.7993
Mapping_dataIn_2_point273
422
423
2720
2721
4974
6130
In_multi_point (25)
In_pos_neg_data1585
1592
DescriptionPhenotypeWBPhenotype:0000004Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkType C Egl at all temperaturesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000005Person_evidenceWBPerson3520
Curator_confirmedWBPerson48
RecessivePerson_evidenceWBPerson3520
Curator_confirmedWBPerson48
Phenotype_assayGenotypedaf-7(e1372)IIIPerson_evidenceWBPerson3520
Curator_confirmedWBPerson48
WBPhenotype:0000006Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkAll these animals retained ~24 eggs compared with wild type animals that retain ~10 eggs.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentYoung well-fed animals were scoredPaper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0000007Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
RemarkLate stage eggs are laid.Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
PenetranceIncompletePaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0000012Paper_evidenceWBPaper00000316
WBPaper00000502
WBPaper00001923
WBPaper00028386
WBPaper00032073
WBPaper00002600
WBPaper00002914
WBPaper00060603
Person_evidenceWBPerson3520
WBPerson261
Curator_confirmedWBPerson48
WBPerson712
RemarkNot dauer constitutive at 15 C.Person_evidenceWBPerson3520
Curator_confirmedWBPerson48
Recovered by selection for resistance to 1% SDS.Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
Weakly dominant for Dauer constitutive.Paper_evidenceWBPaper00001923
Curator_confirmedWBPerson712
Animals formed less than 10% dauer at 16C.Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
Low Daf-c at 15C but 100% Daf-c at 25C.Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
Low levels of dauer worms are observed at 15 and 20 deg C. At 25 deg C, 100% of the animals are dauer.Paper_evidenceWBPaper00002600
Curator_confirmedWBPerson712
constitutive dauer formation at 25C reversible at 15CPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Embryos from each strain were incubated at 24 degC for 50-52 hours to induce dauer formation. As expected, 100% of larvaein the control daf-7 strain were dauers (Fig. 1A).Paper_evidenceWBPaper00060603
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000316
WBPaper00000502
Person_evidenceWBPerson3520
Curator_confirmedWBPerson48
WBPerson712
Temperature_sensitiveHeat_sensitivePerson_evidenceWBPerson3520
Curator_confirmedWBPerson48
25Paper_evidenceWBPaper00000316
WBPaper00000502
WBPaper00028386
WBPaper00032073
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTemperature16Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
15, 25Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
24 deg CPaper_evidenceWBPaper00060603
Curator_confirmedWBPerson712
Genotypedaf-7(e1372)IIIPerson_evidenceWBPerson3520
Curator_confirmedWBPerson48
unc-4(e120)Paper_evidenceWBPaper00028386
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000019Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkWell-fed, pheromone-untreated daf-7(e1372) pumped at 81% of the wild-type rate.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentPumping rates were assayed for well-fed , pheromone-untreated; food-deprived, pheromone-untreated; and well-fed, pheromone-treated animals. Pheromone treatment consisted of transfer of animals grown under well-fed conditions to plates containing 30 ul/ml of a dauer-pheromone prep (Golden and Riddle, 1982) and 30 ml of OP50 E. coli food.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature20Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0000127Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
Remark5.30.27% animals (n=529) recovered at 25C 24 hours after transfer to pre-equilibrated plate.Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000032PATO:0000460Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
Phenotype_assayTemperature25Paper_evidenceWBPaper00031997
Curator_confirmedWBPerson712
WBPhenotype:0000137Paper_evidenceWBPaper00033456
Curator_confirmedWBPerson2021
Remarkpde-1 and ins-7 mRNA expression was decreased in daf-7 mutants compared to N2. PDE-5 and DAF-28 expression was unaltered.Paper_evidenceWBPaper00033456
Curator_confirmedWBPerson2021
WBPhenotype:0000294Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdark intestinePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000295Paper_evidenceWBPaper00038374
Curator_confirmedWBPerson2987
RemarkFigure S13CPaper_evidenceWBPaper00038374
Curator_confirmedWBPerson2987
WBPhenotype:0000408Paper_evidenceWBPaper00002600
Curator_confirmedWBPerson712
RemarkAfter 48 hours at 25 deg C, only a fraction of animals recover from dauer, whereas a significant proportion of animals that entered dauer at lower temperatures do recover.Paper_evidenceWBPaper00002600
Curator_confirmedWBPerson712
WBPhenotype:0000660Paper_evidenceWBPaper00005511
WBPaper00041877
Curator_confirmedWBPerson2021
WBPerson6468
Remarkdaf-7 mutants aggregate and border on food, although less strongly than npr-1 mutant animalsPaper_evidenceWBPaper00005511
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00005511
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00005511
Curator_confirmedWBPerson2021
WBPhenotype:0000964Paper_evidenceWBPaper00037649
Curator_confirmedWBPerson712
Remarkpartially resistantPaper_evidenceWBPaper00037649
Curator_confirmedWBPerson712
WBPhenotype:0001013Paper_evidenceWBPaper00032501
Curator_confirmedWBPerson2021
RemarkMutants had enhanced susceptibility to killing by PA14 than N2Paper_evidenceWBPaper00032501
Curator_confirmedWBPerson2021
WBPhenotype:0001072Paper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
RemarkMutant behavior on aztreonam-treated bacteria was altered compared to wild type. Mutants continued to dwell in unfavorable food conditionsPaper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
WBPhenotype:0001184Paper_evidenceWBPaper00032082
WBPaper00035322
WBPaper00002914
WBPaper00002847
WBPaper00042308
Curator_confirmedWBPerson712
WBPerson2021
WBPerson557
RemarkLate-larval and early-adult animals accumulated ~2.5-fold more fat relative to wild-type animals, as determined by Sudan Black assay as described in Kimura et al., 1997.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Fat stores in daf-2 and daf-7 mutants were high compared to wild type feeding on OP50 as well as on HB101Paper_evidenceWBPaper00035322
Curator_confirmedWBPerson2021
Metabolic shifts, similar to daf-2 mutants are seen in daf-7 mutants.Paper_evidenceWBPaper00002847
Curator_confirmedWBPerson712
The daf-7(e1372) mutants exhibited a 14 percent increase in fat as judged by staining with BODIPY 493/503.Paper_evidenceWBPaper00042308
Curator_confirmedWBPerson557
Oil Red O staining used as a proxy for fat mass.Paper_evidenceWBPaper00042308
Curator_confirmedWBPerson557
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002847
Curator_confirmedWBPerson712
Phenotype_assayTreatmentTo minimize staining variability, which allowed for quantitative comparisons between various genotypes: animals from one genotype were labeled with fluorescein isothiocyanate (FITC) and then fixed and stained in the same tube as unlabeled animals from another genotype.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature22Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0001236Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
RemarkThere was a significant increase in both the intensity (p=0.002) (Figure 1B) and width (p=0.008) (Figure 1C) of GLR-1::GFP puncta in the daf-7(e1372) mutants as compared to wild type.Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
ImageWBPicture0000014919Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005829PATO:0000460Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
Phenotype_assayTemperature15degCPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
GenotypeKP3079 daf-7(e1372)III; nuIs24(Pglr-1:glr-1::gfp)IVPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
WBPhenotype:0001258Paper_evidenceWBPaper00026769
Curator_confirmedWBPerson557
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00026769
Curator_confirmedWBPerson557
Phenotype_assayTemperature25Paper_evidenceWBPaper00026769
Curator_confirmedWBPerson557
WBPhenotype:0001278Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
RemarkThe expression of cuIs5 (or cuIs2), a reporter of TGF-beta -signaling activity, is barely visible, unlike in control animals.Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
Phenotype_assayGenotypecuIs5 or cuIs2Paper_evidenceWBPaper00032073
Curator_confirmedWBPerson712
WBPhenotype:0001291Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkclumpyPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001472Paper_evidenceWBPaper00061941
Curator_confirmedWBPerson712
Remarkadult vs (dauer larvae)DL response difference was not observed in daf-2 towards IAA or daf-7 towards 2,3-butanedione and 2,3-pentanedione.Paper_evidenceWBPaper00061941
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001063Paper_evidenceWBPaper00061941
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000032PATO:0000460Paper_evidenceWBPaper00061941
Curator_confirmedWBPerson712
WBPhenotype:0001506Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
Remarkthe rate of spontaneous reversals is increased in daf-7(e1372) mutants maintained at 15C as compared to wild type maintained at 15C (n=11 of each genotype, p=0.000003).Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
ImageWBPicture0000014919Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
Phenotype_assayTemperature15degCPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
GenotypeKP3079 daf-7(e1372)III; nuIs24(Pglr-1:glr-1::gfp)IVPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
WBPhenotype:0001639Paper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
RemarkMutants of the TGF-beta peptide gene daf-7 were deficient roamers in standard conditionsPaper_evidenceWBPaper00035327
Curator_confirmedWBPerson2021
WBPhenotype:0001654Paper_evidenceWBPaper00004599
Curator_confirmedWBPerson2987
Remarkdaf-7(e1372) mutant animals exhibited a modest resistance to cadmium (Figure 1A)Paper_evidenceWBPaper00004599
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003022Paper_evidenceWBPaper00004599
Curator_confirmedWBPerson2987
WBPhenotype:0001687Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkSrf-6 at 16CPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Temperature_sensitiveCold_sensitive16Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001690Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
RemarkAnimals bind mAb M37 at stages L1-L4 but not as adults, wildtype worms only bind this anti-body at the L1 stage. Animals in dauer stage do not bind mAb 37, similar to wildtype.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
PenetranceHighPentrance ranged from 87-100%.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
Phenotype_assayTemperature16, 25Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
WBPhenotype:0001733Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkThe pumping rate of food-deprived, pheromone-untreated young-adult animals alone was reduced to the same basal level as wild-type; however, the pumping-rate of well-fed, pheromone-treated animals was not reduced, as observed for WT.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentPumping rates were assayed for well-fed , pheromone-untreated; food-deprived, pheromone-untreated; and well-fed, pheromone-treated animals. Acute pheromone treatment consisted of the transfer of animals grown under well-fed conditions to plates containing 30 ul/ml of a dauer-pheromone prep (Golden and Riddle, 1982) and 30 ml of OP50 E. coli food.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature20Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0001765Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
RemarkAcute CO2 avoidance is reducedPaper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
Phenotype_assayTreatment10% CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
WBPhenotype:0001820Paper_evidenceWBPaper00041877
Curator_confirmedWBPerson6468
RemarkBordering is stronger in L4 animals than in adults. Compare Figure 4 to Figure S3Paper_evidenceWBPaper00041877
Curator_confirmedWBPerson6468
WBPhenotype:0001837Paper_evidenceWBPaper00050676
Curator_confirmedWBPerson20840
Remarkdoes not respond to dietary restrictionPaper_evidenceWBPaper00050676
Curator_confirmedWBPerson20840
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00050676
Curator_confirmedWBPerson20840
WBPhenotype:0002262Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
RemarkThere was a significant increase in both the intensity (p=0.002) (Figure 1B) and width (p=0.008) (Figure 1C) of GLR-1::GFP puncta in the daf-7(e1372) mutants as compared to wild type.Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
ImageWBPicture0000014919Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005829PATO:0000460Paper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
Phenotype_assayTemperature15degCPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
GenotypeKP3079 daf-7(e1372)III; nuIs24(Pglr-1:glr-1::gfp)IVPaper_evidenceWBPaper00057227
Curator_confirmedWBPerson712
WBPhenotype:0002355Paper_evidenceWBPaper00045859
Curator_confirmedWBPerson25803
RemarkFigure 1Paper_evidenceWBPaper00045859
Curator_confirmedWBPerson25803
WBPhenotype:0002378Paper_evidenceWBPaper00045859
Curator_confirmedWBPerson25803
RemarkFigure 1Paper_evidenceWBPaper00045859
Curator_confirmedWBPerson25803
WBPhenotype:0002560Paper_evidenceWBPaper00058743
Curator_confirmedWBPerson712
Remarknpr-1 and daf-7 behaved similarly on the agar plates with perforations, where they were more likely to burrow than the wild-type strain (npr-1 vs. N2: Chi2=4.79, p=0.03; OR=1.63, 95% CI=1.04-2.52; daf-7 vs. N2: Chi2=5.23, p=0.02; OR=1.66, 95% CI=1.07-2.57) (Figure 1)Paper_evidenceWBPaper00058743
Curator_confirmedWBPerson712
ImageWBPicture0000014929Paper_evidenceWBPaper00058743
Curator_confirmedWBPerson712
Phenotype_not_observed (15)
Reference (65)
MethodSubstitution_allele