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WormBase Tree Display for Variation: WBVar00146344

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Name Class

WBVar00146344EvidencePaper_evidenceWBPaper00003653
WBPaper00042557
NamePublic_namegm122
Other_nameC01G6.8b.1:c.757C>T
C01G6.8a.1:c.835C>T
CE39126:p.Gln120Ter
C01G6.8c.1:c.358C>T
C01G6.8c.2:c.358C>T
CE24774:p.Gln253Ter
CE32563:p.Gln279Ter
HGVSgCHROMOSOME_II:g.9298616G>A
Sequence_detailsSMapS_parentSequenceC01G6
Flanking_sequencestataaagtttgcgaatcggattctaacaataaattgtttcgatttgcaagcacgattgtg
Mapping_targetC01G6
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00028753
WBStrain00035434
WBStrain00035438
WBStrain00035439
WBStrain00055653
LaboratoryNG
StatusLive
AffectsGeneWBGene00000289
TranscriptC01G6.8c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC01G6.8c.1:c.358C>T
HGVSpCE39126:p.Gln120Ter
cDNA_position461
CDS_position358
Protein_position120
Exon_number3/8
Codon_changeCaa/Taa
Amino_acid_changeQ/*
C01G6.8b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC01G6.8b.1:c.757C>T
HGVSpCE24774:p.Gln253Ter
cDNA_position789
CDS_position757
Protein_position253
Exon_number5/10
Codon_changeCaa/Taa
Amino_acid_changeQ/*
C01G6.8c.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScC01G6.8c.2:c.358C>T
HGVSpCE39126:p.Gln120Ter
cDNA_position363
CDS_position358
Protein_position120
Exon_number2/7
Codon_changeCaa/Taa
Amino_acid_changeQ/*
C01G6.8a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC01G6.8a.1:c.835C>T
HGVSpCE32563:p.Gln279Ter
cDNA_position838
CDS_position835
Protein_position279
Exon_number6/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (53)
GeneticsInterpolated_map_positionII1.10234
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
PenetranceIncomplete35 percentPaper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
WBPhenotype:0000155Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
RemarkTable 2Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006466
WBTransgene00007261
EQ_annotationsAnatomy_termWBbt:0004905PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
WBbt:0004904PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
WBbt:0004902PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
WBbt:0004900PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
WBPhenotype:0000163Paper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
PenetranceIncomplete38 percentPaper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
WBPhenotype:0000230Paper_evidenceWBPaper00031110
WBPaper00002978
Curator_confirmedWBPerson712
WBPerson557
PenetranceLow20 percentPaper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
Variation_effectNullPaper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
WBPhenotype:0000232Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Remark"In cam-1 mutants, CAN neurons usually fail to migrate to their proper positions; they are misplaced anteriorly either near their starting points or along their migratory routes. This migration defect is rescued by expression of pCAM-1 in cam-1(gm122) mutants (Forrester et al., 1999; Fig. 2B, Table 1)." (Figure 3)Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Table 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
PenetranceIncomplete84Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
86Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006465
WBTransgene00007258
EQ_annotationsAnatomy_termWBbt:0006827PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"CAN was scored as defective if its nucleus was anterior to the V3 nucleus."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From Table 1 legend: "A CAN was scored as defective if its nucleus was anterior to the V3 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000308Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
RemarkDauer development is disrupted.Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
WBPhenotype:0000384Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
RemarkSIA and SIB neurons had guidance errors at multiple positionsPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0000469Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Remark"In cam-1(gm122) mutants, the QR descendants are sometimes misplaced posteriorly (Fig. 4C, Table 1; Forrester and Garriga, 1997). We found that expression of wild-type CAM-1 or any of the CAM-1 derivatives that retained the CRD was not sufficient to fully rescue the migrations of the QR descendants although pCAM-1 Δ CRD did rescue (Fig. 4C, Table 1)."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Table 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
PenetranceIncomplete39Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006466
WBTransgene00007261
EQ_annotationsAnatomy_termWBbt:0004991PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0003832PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Because they occupy positions near each other, the data for SDQR and AVM were combined and are presented in QR column. SDQR and AVM were scored as defective if their nuclei were posterior to the V2.a nucleus."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From Table 1 legend: "Because they occupy positions near each other, the data for SDQR and AVM were combined and are presented in the QR column. SDQR and AVM were scored as defective if their nuclei were posterior to the V2.a nucleus. The position of AQR, a third QR descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000470Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Remark"In cam-1(gm122) mutants, the HSNs migrate anteriorly past their normal positions. Expression of pCAM-1 rescues this overmigration phenotype. In fact, pCAM-1 causes the final positions of HSNs to be shifted on average posterior to normal, presumably because of overexpression from the transgene (Forrester et al., 1999; Fig. 2C, Table 1)." (Figure 3)Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
In cam-1(gm122) mutants, the HSN cell migrates anteriorly beyond its wild type destination (Figure 2, Table 1)Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
PenetranceIncomplete63Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
65Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006465
WBTransgene00007258
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Because HSN sometimes was misplaced anteriorly and other times was misplaced posteriorly, we present the data for both phenotypes. HSN was scored as misplaced anteriorly if its nucleus was anterior to the P5/6 nucleus and misplaced posteriorly if its nucleus was posterior to the V4 nucleus."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From Table 1 legend: "Because the HSNs were sometimes misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. An HSN was scored as misplaced anteriorly if its nucleus was anterior to the P5/6 nucleus and as misplaced posteriorly if its nucleus was posterior to the V4 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000471Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
PenetranceIncomplete27Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006465
WBTransgene00007258
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"ALM was scored as defective if its nucleus was anterior to the V2 nucleus."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From the Table 1 legend: "An ALM was scored as defective if its nucleus was anterior to the V2 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000594Paper_evidenceWBPaper00003653
WBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson712
WBPerson2987
RemarkThis mutation exhibits stronger effects on cell migrations than does gm105. This phenotype is rescued by a kinase-activity defective CAM-1::GFP transgene as well as a functional cam-1::GFP transgene.Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
Table 1Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
PenetranceIncomplete14Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00006465
WBTransgene00007258
EQ_annotationsAnatomy_termWBbt:0006826PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Because BDU sometimes was misplaced anteriorly and other times was misplaced posteriorly, we present the data for both phenotypes. BDU was scored as misplaced anteriorly if its nucleus was anterior to its normal position immediately anterior to V1 and misplaced posteriorly if its nucleus was posterior to the V1 nucleus."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From Table 1 legend: "Because BDUs sometimes were misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. A BDU was scored as misplaced anteriorly if its nucleus was anterior to its normal position immediately anterior to V1 and misplaced posteriorly if its nucleus was posterior to the V1 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000643Paper_evidenceWBPaper00003653
WBPaper00002978
Curator_confirmedWBPerson712
WBPerson557
RemarkLocomotion is disrupted.Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
PenetranceComplete100 percentPaper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
WBPhenotype:0000883Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
Remarkcam-1 mutants had substantial anterior nerve ring defectsPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0001224Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
RemarkInstead of extending its axon posteriorly, the most anterior CP neuron in 26-55% of cam-1 mutants extended its axon anteriorly to the head, in addition, the polarity of the P3.aap precursor division may have been reversedPaper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
WBPhenotype:0001398Paper_evidenceWBPaper00037046
Curator_confirmedWBPerson274
WBPhenotype:0001585Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
Remark12% of V1 cell divisions are reversed, with the anterior daughter adopting the blast-cell fate and the posterior daughter joining the syncytium. This phenotype was not rescued with a kinase-minus CAM-1::GFP transgene, but was rescued by a functional-cam-1::GFP. Other migration defects were observed for V2, V4, CAN as well as with BDU and HSN, which migrated beyond their normal destination.Paper_evidenceWBPaper00003653
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000218Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
RemarkNo significant number of overinduced animals (worms with greater than three VPCs induced) were detected.Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
WBPhenotype:0000219Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
RemarkNo underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected.Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
WBPhenotype:0000306Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Remark"Wild-type animals or cam-1 mutants that carry mab-5::gfp expressed high levels of GFP in QL descendants but not in QR descendants (Figure 5; Table 2)."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004993PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayGenotypemuIs16 [mab-5::GFP]Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000406Paper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
WBPhenotype:0000469Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
Remark"In cam-1(gm122) mutants, the QL descendants usually migrate to their proper positions (Fig. 4B)... To further investigate the role in Q cell migration of CAM-1 domains, we assessed the position of Q cell descendants in cam-1(sa692) and cam-1(ks52) (Fig. 5, Table 1). The final positions of QL descendants were similar in all three cam-1 mutants to wild type, suggesting that CAM-1 is not required for proper QL migration."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Table 1, Figure 6Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004993PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0004056PATO:0000460Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00006269
WBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"The percentage of QL cell descendants that were not located posterior to V4.p is presented. These represent QL descendants that have migrated anteriorly, rather than posteriorly. Because they occupy positions near each other, the data for SDQL and PVM were combined."Paper_evidenceWBPaper00006269
Curator_confirmedWBPerson2987
From Table 1 legend: "Because QL descendants sometimes were misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. A QL cell descendant was scored as misplaced anteriorly if its nucleus was anterior to V4.p and misplaced posteriorly if its nucleus was posterior to V5.p. Because they occupy positions near each other, the data for SDQL and PVM were combined."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000700Paper_evidenceWBPaper00002978
Curator_confirmedWBPerson557
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0002193Paper_evidenceWBPaper00057191
Curator_confirmedWBPerson712
Remark0% n=54Paper_evidenceWBPaper00057191
Curator_confirmedWBPerson712
ImageWBPicture0000014918Paper_evidenceWBPaper00057191
Curator_confirmedWBPerson712
Reference (11)
MethodSubstitution_allele