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WormBase Tree Display for Variation: WBVar00143616

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Name Class

WBVar00143616EvidencePaper_evidenceWBPaper00003027
NamePublic_namee936
Other_nameF55C7.7i.1:c.4191+1G>T
F55C7.7b.1:c.4191+1G>T
F55C7.7i.2:c.4191+1G>T
F55C7.7a.1:c.4191+1G>T
HGVSgCHROMOSOME_I:g.4021953C>A
Sequence_detailsSMapS_parentSequenceF55C7
Flanking_sequencesttacaactgtttggatttgaaggatttcaagtagggcttggactttcaattaggtataatta
Mapping_targetF55C7
Type_of_mutationSubstitutiongtPaper_evidenceWBPaper00003027
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000214
WBStrain00004218
WBStrain00004368
WBStrain00023447
WBStrain00055586
WBStrain00055587
WBStrain00055589
WBStrain00055590
WBStrain00055591
WBStrain00055593
LaboratoryCB
StatusLive
AffectsGeneWBGene00006805
TranscriptF55C7.7i.1VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScF55C7.7i.1:c.4191+1G>T
Intron_number16/25
F55C7.7b.1VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScF55C7.7b.1:c.4191+1G>T
Intron_number16/20
F55C7.7a.1VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScF55C7.7a.1:c.4191+1G>T
Intron_number17/33
F55C7.7i.2VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScF55C7.7i.2:c.4191+1G>T
Intron_number16/24
InteractorWBInteraction000050649
WBInteraction000501032
WBInteraction000501655
WBInteraction000519035
WBInteraction000519114
WBInteraction000524755
WBInteraction000538746
WBInteraction000538747
WBInteraction000538748
WBInteraction000538756
WBInteraction000538761
WBInteraction000538766
WBInteraction000538769
IsolationMutagen32P
GeneticsInterpolated_map_positionI-1.85907
Mapping_dataIn_2_point6
3200
In_multi_point20
966
967
1219
1682
1683
1759
1761
1763
In_pos_neg_data504
521
3201
3965
3973
3983
3991
4001
4005
4008
4011
4014
4075
4084
6163
6268
6337
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range3434Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000016Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001549Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000093Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkoccasional lineage defectsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000104Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Remark"Mutations in unc-73 also blocked the Q migrations and disrupted the polarized leading processes (Fig. 3I-M). In animals carrying the weak unc-73 allele e936, 6% of the QL cells were unpolarized and 9% of the QR cells were unpolarized. In animals containing the stronger unc-73 allele, gm33, 24% of QL cells and 26% of QR cells were unpolarized."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
GO_termGO:0030010PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000181Paper_evidenceWBPaper00001105
WBPaper00031671
Curator_confirmedWBPerson2021
RemarkHSN axons are posteriorly misdirected and never reach the nerve ringPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Both branches of the NSM major process are often either absent or show premature termination in the unc-73 mutant. In this mutant, 27% of the dorsal processes and 10% of the sub-ventral processes are absent.Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
PenetranceLowPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range66Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBbt:0003666PATO:0000460Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Phenotype_assayGenotypezdIs13 [ tph-1p::GFP]Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
WBPhenotype:0000195Paper_evidenceWBPaper00046150
Curator_confirmedWBPerson557
RemarkDistal tip cells (DTCs) overshoot the vulval region because of a defect in cessation of their migration.Paper_evidenceWBPaper00046150
Curator_confirmedWBPerson557
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00046150
Curator_confirmedWBPerson557
WBPhenotype:0000229Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000232Paper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
Remarke936 mutation frequently resulted in defective ALM and CAN migrationPaper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006827PATO:0000460Paper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
WBPhenotype:0000324Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
WBPhenotype:0000425Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
RemarkMutant animals exhibited reduced or lost expression of MAB-5 protein in QL descendants, as determined by antibody staining (Figure 6E)Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0007274PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0007276PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000443Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMale copulatory spicules short and crumpled.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000469Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Remark"We found that mutations in unc-40, dpy-19 and unc-73 prevent the Q cells from migrating. We quantified the extent of these migrations by measuring the separation of the Q cell nuclei along the A/P axis at 2.5-3.5 hours. At this time in wild-type animals, the Q cells have moved approximately 25 μm apart from one another. By contrast, in unc-40, dpy-19 and unc-73 mutants, QL and QR are still in similar A/P positions (Fig. 2)." (also Figure 6E, 7)Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
"At a lower frequency, the QL and QR descendants were misplaced in unc-73 mutants (Fig. 7 and Way et al., 1992)."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004993PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0003832PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004991PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000470Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSNs fail to arrive at their final destination (between P5/6 and V4)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000471Paper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
Remarke936 mutation frequently resulted in defective ALM and CAN migrationPaper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00032941
Curator_confirmedWBPerson2021
WBPhenotype:0000565Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkES3 ME0Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000571Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkSynaptic vesicles are misaccumulated in GABAergic D-type motor neurons as assayed by gaps in the pattern of fluorescence of juIs1[Punc-25::SNB-1::GFP] labeled vesicles.Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005190PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBbt:0005303PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000583Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkdumpyishPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000594Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkreduced Z migrationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
RemarkBranch defects scored in PLM neuron.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
PenetranceLowPaper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
WBPhenotype:0000641Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkinactivePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00001105
WBPaper00032907
Curator_confirmedWBPerson2021
WBPerson712
WBPhenotype:0000880Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkvariable defects in axon growth and fasciculationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000944Paper_evidenceWBPaper00049729
Curator_confirmedWBPerson24243
RemarkFigure 1, PLM anterior neurite was shortened in the mutants in the mutants.Paper_evidenceWBPaper00049729
Curator_confirmedWBPerson24243
EQ_annotationsAnatomy_termWBbt:0005490PATO:0000460Paper_evidenceWBPaper00049729
Curator_confirmedWBPerson24243
GO_termGO:0043005PATO:0002364Paper_evidenceWBPaper00049729
Curator_confirmedWBPerson24243
WBPhenotype:0001224Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceIncomplete51 percent of mutants have ventral blocks and 37 percent have anterior blocksPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001226Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkAnimals exhibit commissural axon guidance defects.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
WBPhenotype:0001404Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
RemarkMutant animals exhibited ectopic expression of MAB-5 protein in QR descendants, as determined by antibody staining (Figure 6E)Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0007279PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0007281PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0001767Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkcommissures often on wrong sidePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001930Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkAnimals exhibit fewer dorsal and ventral muscle arms than control. This defect can be rescued by muscle-expressed UNC-73, but not by neuronal-expressed UNC-73.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000241Paper_evidenceWBPaper00004897
Curator_confirmedWBPerson2021
RemarkNo accumulation of dead cell corpsesPaper_evidenceWBPaper00004897
Curator_confirmedWBPerson2021
WBPhenotype:0001413Paper_evidenceWBPaper00040813
Curator_confirmedWBPerson2706
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Disease_infoModels_diseaseDOID:1826
Models_disease_in_annotationWBDOannot00000553
ReferenceWBPaper00040813
WBPaper00027255
WBPaper00031671
WBPaper00032446
WBPaper00010922
WBPaper00004897
WBPaper00004883
WBPaper00035198
WBPaper00018342
WBPaper00006109
WBPaper00001105
WBPaper00004437
WBPaper00014523
WBPaper00011146
WBPaper00032907
WBPaper00016473
WBPaper00014234
WBPaper00017706
WBPaper00014129
WBPaper00024366
WBPaper00032941
WBPaper00003950
WBPaper00017425
WBPaper00014641
WBPaper00002447
WBPaper00017339
WBPaper00023401
WBPaper00022024
WBPaper00017292
WBPaper00017430
WBPaper00023829
WBPaper00018979
WBPaper00045955
WBPaper00049729
WBPaper00046150
MethodSubstitution_allele