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WormBase Tree Display for Variation: WBVar00145224

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Name Class

WBVar00145224NamePublic_nameev400
Other_nameCE04538:p.Gln99Ter
F41C6.1.1:c.295C>T
F41C6.1.2:c.295C>T
HGVSgCHROMOSOME_X:g.6890534C>T
Sequence_detailsSMapS_parentSequenceF41C6
Flanking_sequencestgtgacacttgtgatgctagaaaccatttcaatcccatccagcctctcttctaactgatc
Mapping_targetF41C6
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00002378
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (69)
LaboratoryNW
StatusLive
AffectsGeneWBGene00006746
TranscriptF41C6.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF41C6.1.1:c.295C>T
HGVSpCE04538:p.Gln99Ter
cDNA_position361
CDS_position295
Protein_position99
Exon_number4/15
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F41C6.1.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF41C6.1.2:c.295C>T
HGVSpCE04538:p.Gln99Ter
cDNA_position361
CDS_position295
Protein_position99
Exon_number4/16
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (31)
IsolationMutagenEMS
GeneticsInterpolated_map_positionX-2.1004
Mapping_dataIn_multi_point4795
DescriptionPhenotypeWBPhenotype:0000104Paper_evidenceWBPaper00035117
WBPaper00035146
Curator_confirmedWBPerson2021
RemarkThe polarity of the dense F-actin network was perturbed in unc-6(ev400) mutants. INA-1/PAT-3::GFP was localized normally in unc-6(ev400)Paper_evidenceWBPaper00035117
Curator_confirmedWBPerson2021
UNC-40::GFP is not asymmetrically localized like WT but is more equally distributed across the HSN surface.Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson2021
WBPhenotype:0000181Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Remark32% of the NSM neurons have no dorsal process and 24% have a short dorsal process in unc-6 mutantsPaper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0003666PATO:0000460Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Phenotype_assayGenotypezdIs13 [ tph-1p::GFP]Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
WBPhenotype:0000195Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
Remark"An additional double mutant was constructed between unc-52(ev620) and unc-6(ev400), and in this case also, the penetrance of defects was greater than in unc-6(ev400) alone (Table 1). unc-6(ev400) alone exhibited 48% anterior and 83% posterior DTC defects (n = 122). The double mutant unc-52(ev620); unc-6(ev400) exhibited 79% anterior (P < 0.001) and 91% posterior (P < 0.05) DTC defects (n = 100)."Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
PenetranceIncompletePaper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006865PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
WBPhenotype:0000299Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkhigh frequency of phasmid axon displacementPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006753PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000352Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
RemarkStrong Unc phenotypePaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0000384Paper_evidenceWBPaper00031901
WBPaper00032163
WBPaper00036484
WBPaper00035146
WBPaper00040147
WBPaper00031828
WBPaper00040041
Curator_confirmedWBPerson712
Remark714 HSN neurons fail to reach the VNC whereas 203 neurons exhibit mild defects (n=150).Paper_evidenceWBPaper00031901
Curator_confirmedWBPerson712
Half of animals exhibited DA9 axon guidance defects.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
The primary axon of ADL grows into the nerve ring ventrally rather than laterally. This phenotype occurs at a lower frequency than the axon branching phenotype. AVM axons fail to grow ventrally. HSN motor neurons fail to polarize properly.Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
AVM axons migrate anteriorly and HSN axons migrate in a number of aberrant patterns.Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
Mutants displayed a nearly complete failure of dorsally directed VD axons to reach the dorsal cord.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
Animals had strong axon guidance defects.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
Animals exhibit dorsal guidance defects.Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
Animals exhibit AVM ventral axon guidance defects. These defects can be rescued by exogenous acetylcholine.Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
PenetranceLowPaper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
HighPaper_evidenceWBPaper00031901
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00031901
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004765Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_term (7)
Phenotype_assayTreatment25Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
Genotypeunc-5::intron::unc-5Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
RemarkLoss of UNC-6 resulted in the mislocalization of UNC-40::GFP along lateral and apical membranes. Polarized localization of MIG-2, F-actin, PtdIns (4,5) P2 and UNC-34 was dependent on UNC-6. In unc-6 mutants, there was a 65% reduction in HIM-4 deposited under the invasive cell membrane and a threefold increase in HIM-4 accumulation along lateral and apical membranes of the AC, compared with wild-type controlsPaper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeqyIs66 and qyIs67 [cdh-3p::UNC-40::GFP], muIs27[GFP::mig-2], qyIs61[cdh-3::GFP::unc-34], qyIs23[cdh-3::mCherry:: PLCPH], qyIs24[cdh-3::mCherry::PLCPH], qyIs50[cdh-3::mCherry::moeABD], syIs129[hemicentin-SP::GFP]Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0000511Paper_evidenceWBPaper00040080
Curator_confirmedWBPerson712
RemarkAlthough the DTCs were always directed dorsally at the first turn in the wild type, they turned dorsally or ventrally as well as laterally in unc-6 mutants. When we examined the unc-6 DTCs after the first turn, the nuclei were always translocated to the leading edge of the DTCs irrespective of the turning direction.Paper_evidenceWBPaper00040080
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00040147
WBPaper00045955
Curator_confirmedWBPerson712
WBPerson557
RemarkBranch defects scored in PLM neuron.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
PenetranceIncompletePaper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
EQ_annotationsAnatomy_term (2)
WBPhenotype:0000643Paper_evidenceWBPaper00038105
WBPaper00040335
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson7190
RemarkMore Unc than e78.Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
uncoordinated, high frequency of phasmid axon displacementPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
animals are severely uncoordinated in movementPaper_evidenceWBPaper00040335
Curator_confirmedWBPerson7190
WBPhenotype:0000679Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
RemarkUNC-40::GFP is globally localized unlike in wild type animals, and in HSN is evenly distributed along the surface rather than asymmetrically localized.Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
WBPhenotype:0000695Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
RemarkHighly penetrant vulval morphology defect: vulF is misshapenPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0000847Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
RemarkPresynaptic components, such as RAB-3, SNB-1/synaptobrevin and SNG-1/synaptogyrin, the L-type voltage gated calcium channel b-subunit CCB-1, and the active zone protein SYD-2/a-liprin were mislocalized to the dendrite.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004857PATO:0000460Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0000880Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RemarkALA axon mispositionedPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
GO_termGO:0030424PATO:0000628Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
WBPhenotype:0000882Paper_evidenceWBPaper00032163
WBPaper00056066
WBPaper00056964
Curator_confirmedWBPerson712
WBPerson18979
WBPerson48777
RemarkThe localization of four dendritically localized proteins (CAM-1/ROR16, UNC-9/innexin, F35D2.3/fibrillin and DYS-1/dystrophin16) were unaffected.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
PVD 1&deg; dendrite branch mispositionedPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
3&deg; dendrites that fail to self-avoid and overgrow one another. Fig 3DPaper_evidenceWBPaper00056964
Curator_confirmedWBPerson48777
PenetranceIncompletePaper_evidenceWBPaper00056964
Curator_confirmedWBPerson48777
EQ_annotationsAnatomy_term (2)
GO_termGO:0044307PATO:0000628Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
Phenotype_assayControl_strainWBStrain00047813Paper_evidenceWBPaper00056964
Curator_confirmedWBPerson48777
GenotypewdIs52 (pF49H12.4::GFP)Paper_evidenceWBPaper00056964
Curator_confirmedWBPerson48777
WBPhenotype:0000961Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Remark"To determine whether a proximity of the AC and the 1&deg; VPC descendants is required for 1&deg; lineage patterning, we examined dig-1 or unc-6 mutants, with or without AC attachment... In unc-6 mutants, the gonad is positioned ventrally as in wild type. However, in about 22% of the animals, the AC improperly migrates dorsally or laterally within the ventral gonad (the distance between the AC and P6.pxx cells is less than 20 &mu;m), rather than attaching to the inner P6.pxx cells during L3 lethargus (Hedgecock et al., 1990; D. R. Sherwood and P. W. S., unpublished). In 26 animals with a displaced AC, only four of 26 P6.p cells had wild-type patterns of zmp-1::GFP expression in its progeny (Table 2). In contrast, when the AC was correctly positioned and attached to inner P6.pxx cells, all 37 P6.p cells formed the wild-type 1&deg; pattern, indicating that the P6.p descendants are capable of forming a wild-type 1&deg; pattern in an unc-6 background, when the AC is correctly positioned (P<0.0001, Table 2)."Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0007809PATO:0000460Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Phenotype_assayGenotypesyIs49 [zmp-1::GFP]Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
WBPhenotype:0001224Paper_evidenceWBPaper00038105
WBPaper00003665
Curator_confirmedWBPerson712
RemarkAnimals exhibit less axon outgrowth defects than e78.Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
71% of animals showed wild-type ASI amphid neuron outgrowth. Mutants also showed premature axon termination (12%) or lateral axon outgrowth (17%).Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
Phenotype_assayGenotypekyIs128[str-3::GFP]Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
WBPhenotype:0001227Paper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
RemarkRay commissures absent: R1, R2/3, R4/5.Paper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
PenetranceIncompletePaper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
Range7288Paper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
WBPhenotype:0001652Paper_evidenceWBPaper00032446
WBPaper00033081
WBPaper00039950
Curator_confirmedWBPerson2021
WBPerson712
RemarkAC failed to invade in unc-6(ev400) mutants and only partially completed a delayed invasion by the L4 stagePaper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Variable AC invasion defects: 38% of animals show no AC invasion and 44% of animals show an obvious interruption in the basement membrane but no significant vulF penetration by the ACPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_assayGenotypekuIs38 [cdh-3::GFP]Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0001798Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0001801Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
RemarkPresynaptic components such as RAB-3, calcium channel subunits and other active zone proteins are not excluded from DA9 dendrites as they are in control animals.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004857PATO:0000460Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0001931Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkAnimals have 4-6 muscle arms per side that project into the lateral space as they extended towards misguided commissural motor axons.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
WBPhenotype:0001984Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
RemarkAnimals exhibited a high level of long-range axon migration defectsPaper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
WBPhenotype:0001985Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
RemarkAnimals exhibited a low level of short-range axon migration defects.Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000104Paper_evidenceWBPaper00033081
WBPaper00004437
Curator_confirmedWBPerson2021
WBPerson2987
RemarkPolarity is normal in all mutantsPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
"Using MIG-2::GFP, we confirmed that Q cell polarization in unc-6 mutants was also normal (data not shown)."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_term (2)
GO_termGO:0030010PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekuIs47 [AJM-1::GFP]Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
MIG-2::GFPPaper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000220Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Remarkzmp-1 and lin-3 markers are expressed in the correct cell at the expected time in over 90% of the mutantsPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_assayGenotypesyIs107[lin-3(delta-pes-10)::GFP], syIs49[zmp- 1::GFP]Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0000436Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
RemarkFrom the text: "To examine whether the axonal distribution of UNC-6 by IRE-1 was required for UNC-6-mediated axon guidance, we generated worms in which UNC-6 was expressed only in the ventral neurons. We used the glr-1 promoter (Hart et al . 1995) to drive unc-6 gene expression in the ventral neurons in unc-6 null mutants. In these worms, UNC-6 was observed in the axons and cell bodies (Fig. 2D)."Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
Phenotype_assayGenotype[ghEx15(glr-1p::unc-6::Venus; tph-1p::GFP)]Paper_evidenceWBPaper00046107
Curator_confirmedWBPerson10038
WBPhenotype:0000469Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Remark"We found that in the null allele unc-6 (ev400) (Ishii et al., 1992), the Q cells still migrated almost as far as they do in wild type (Fig. 2)."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_term (2)
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000679Paper_evidenceWBPaper00032446
WBPaper00036484
Curator_confirmedWBPerson2021
WBPerson712
RemarkPAR-3::GFP, which localizes to apical and lateral membranes in wild-type ACs and AJM-1::GFP which marks nascent apical spot junctions, were normal in unc-6 mutantsPaper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
MADD-2::GFP was excluded from the dorsal ADL branch and was present at high levels in the cell body, a pattern that was also observed in control animals.Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005661PATO:0000460Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
Phenotype_assayGenotypezuIs20 [par-3::GFP] , jcIs1[ajm-1::GFP]Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0000717Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
RemarkTranscriptional reporters for FOS-1A and two of its downstream targets, ZMP-1, a matrix metalloproteinase, and hemicentin (HIM-4), a conserved extracellular matrix protein, were expressed normally in unc-6 mutantsPaper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Phenotype_assayGenotyperhIs23[hemicentin::GFP], qyIs17[zmp-1p::mCherry], syIs77[zmp-1::YFP]Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0001930Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkVentral muscle arm extension in animals was indistinguishable from that of wild-type controls.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Reference (40)
MethodSubstitution_allele