Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00054712

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00054712EvidencePaper_evidenceWBPaper00026706
NamePublic_namecw49
Other_nameCE39149:p.Trp330Ter
F27E11.3.1:c.990G>A
HGVSgCHROMOSOME_V:g.3443234C>T
Sequence_detailsSMapS_parentSequenceF27E11
Flanking_sequencestttcttcggaatggctgcctcggtttggtggtgatcctttcgctaacctgggtgctgtcg
Mapping_targetF27E11
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00026706
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryWF
StatusLive
AffectsGeneWBGene00000478
TranscriptF27E11.3.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF27E11.3.1:c.990G>A
HGVSpCE39149:p.Trp330Ter
cDNA_position992
CDS_position990
Protein_position330
Exon_number3/6
Codon_changetgG/tgA
Amino_acid_changeW/*
GeneticsInterpolated_map_positionV-11.6715
DescriptionPhenotypeWBPhenotype:0000232Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"Among the mutations that we isolated was cw49, which caused defects in both CAN and HSN cell migration... By analogy to other mutations in Frizzleds as well as other serpentine receptors, both cfz-2 mutations are predicted to reduce or eliminate gene function (Chen et al., 2004; Heymann and Subramaniam, 1997; Ray et al., 1997; Sawa et al., 1996; Unson et al., 1995). Consistent with this, both mutations are recessive... Ironically, although cfz-2(cw49) was isolated in a screen for CAN and HSN cell migration defects, after backcrossing to remove unlinked mutations and the kal-1::gfp reporter transgene, CAN and HSN migrations are nearly normal (Fig. 5, Table 1). The kal-1::gfp reporter transgene apparently is responsible for this enhancement; crossing it back into outcrossed cfz-1(cw49) mutants restores the CAN migration defects (not shown)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLowPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Variation_effectPredicted_hypomorph_via_sequencePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006827PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A CAN was scored as anteriorly misplaced (Ant.) if its nucleus was anterior to the V3 nucleus and posteriorly misplaced (Post.) if posterior to the V4 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Genotypekal-1::gfpPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000469Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"QL and its descendants migrate posteriorly whereas QR and its descendants migrate anteriorly (Fig. 1; Sulston and Horvitz, 1977). In cfz-2 mutants, the migrations of QR descendants terminated posterior to their normal position 11.8% of the time (Fig. 4, Table 1). QL descendant migration in cfz-2 mutants is indistinguishable from wild type (Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete12Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004991PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0003832PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A QR cell descendant was scored as defective if its nucleus was posterior to the V2.a nucleus. Because they occupy positions near each other, the data for SDQR and AVM were combined. The position of AQR, a third QR descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000470Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"Among the mutations that we isolated was cw49, which caused defects in both CAN and HSN cell migration... By analogy to other mutations in Frizzleds as well as other serpentine receptors, both cfz-2 mutations are predicted to reduce or eliminate gene function (Chen et al., 2004; Heymann and Subramaniam, 1997; Ray et al., 1997; Sawa et al., 1996; Unson et al., 1995). Consistent with this, both mutations are recessive... Ironically, although cfz-2(cw49) was isolated in a screen for CAN and HSN cell migration defects, after backcrossing to remove unlinked mutations and the kal-1::gfp reporter transgene, CAN and HSN migrations are nearly normal (Fig. 5, Table 1). The kal-1::gfp reporter transgene apparently is responsible for this enhancement; crossing it back into outcrossed cfz-1(cw49) mutants restores the CAN migration defects (not shown)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLowPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Variation_effectPredicted_hypomorph_via_sequencePaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"An HSN was scored as defective if its nucleus was posterior to the V4 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Genotypekal-1::gfpPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000471Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"The ALM cells migrate posteriorly during embryogenesis to occupy a range of final positions between the two hypodermal cells, V2 and V3 (Figs. 1 and 3) (Sulston et al., 1983). In cfz-2 mutants, 18% of ALM cells are located anterior to V2 (Fig. 3, Table 1). In addition, even ALM cells that migrate to within the normal range of positions tend to be shifted anteriorly on average (Fig. 3)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete18Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"An ALM was scored as anteriorly misplaced (Ant.) if its nucleus was anterior to the V2 nucleus and posteriorly misplaced (Post.) if posterior to the V3 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000633Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"In males, six Pn.aap neuroblasts divide asymmetrically to produce two daughter cells, CA and CP (Sulston et al., 1980). In wild type, CP neurons extend a single axon towards the posterior and express high levels of serotonin (Loer and Kenyon, 1993).We examined the morphology of the CA and CP neurons and their axons by immunofluorescent histochemistry using anti-serotonin antibodies. We found that in 12% of cfz-2 homozygous mutant males CP neurons produced an anteriorly extending ectopic axon in addition to the normal posteriorly extending axon and 5% had branched axons (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceLow5Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004903PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004901PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004899PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004897PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004895PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004893PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004891PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004889PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004888PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004887PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Axon morphology was examined by indirect immunofluorescence using anti-serotonin antibody (HSN and CP) or two independent GFP-expressing reporter transgenes, ceh-23::gfp and kal-1::gfp (CAN)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000952Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"Loss of CFZ-2 resulted in disorganization of the anterior ganglion. The kal-1::gfp reporter transgene is expressed in several cells of the anterior ganglia (Bulow et al., 2002). In wild-type animals, the neurons are organized relatively compactly to form the head ganglion (Fig. 7; White et al., 1986). Located halfway between the anterior and posterior bulb of the pharynx is the nerve ring, the major neuropil in the head (White et al., 1986). We noticed that in cfz-2 mutant animals, several kal-1::gfp-expressing cell bodies were shifted anterior 75% of the time, a phenomenon seen in only 13% of the wild-type animals (Fig. 7). Furthermore, the nerve ring was shifted anteriorly in 85% of the animals and was spread more diffusely over a larger area of the head of the animal (Fig. 7)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005375PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0061548PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekal-1::gfpPaper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0001761Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"More penetrant was a misrouting defect, where approximately 24% of HSN axons inappropriately crossed the ventral midline to extend anteriorly on the contralateral side (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete21Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Axon morphology was examined by indirect immunofluorescence using anti-serotonin antibody (HSN and CP) or two independent GFP-expressing reporter transgenes, ceh-23::gfp and kal-1::gfp (CAN)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0002490Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"In cfz-2 mutants, approximately 8% of HSNs extended a second axon, generally from the posterior side (Table 2). The ectopic axons sometimes appeared to merge with the primary axons, after which they entered the VNC (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
"In males, six Pn.aap neuroblasts divide asymmetrically to produce two daughter cells, CA and CP (Sulston et al., 1980). In wild type, CP neurons extend a single axon towards the posterior and express high levels of serotonin (Loer and Kenyon, 1993). We examined the morphology of the CA and CP neurons and their axons by immunofluorescent histochemistry using anti-serotonin antibodies. We found that in 12% of cfz-2 homozygous mutant males CP neurons produced an anteriorly extending ectopic axon in addition to the normal posteriorly extending axon and 5% had branched axons (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
"Each CAN produces two axons, one that extends anteriorly to the nerve ring and one that extends posteriorly to the tail (Durbin, 1987; White et al., 1986). Both kal-1::gfp and ceh-23::gfp reporter transgenes express GFP in CAN cells and their axons, as well as in other neurons (Bulow et al., 2002; Zallen et al., 1999). We used these two reporter transgenes to independently assess CAN morphology in cfz-2 mutant animals. Most CANs appeared morphologically normal, but occasional axonal defects were detected. On average, 11% of CAN axons produce ectopic branches (Fig. 6, Table 2)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
PenetranceIncomplete12Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
11Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Low9Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_term (12)
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"Axon morphology was examined by indirect immunofluorescence using anti-serotonin antibody (HSN and CP) or two independent GFP-expressing reporter transgenes, ceh-23::gfp and kal-1::gfp (CAN)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000469Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Remark"QL and its descendants migrate posteriorly whereas QR and its descendants migrate anteriorly (Fig. 1; Sulston and Horvitz, 1977). In cfz-2 mutants, the migrations of QR descendants terminated posterior to their normal position 11.8% of the time (Fig. 4, Table 1). QL descendant migration in cfz-2 mutants is indistinguishable from wild type (Table 1)."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004993PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A QL cell descendant was scored as misplaced anteriorly if its nucleus was anterior to V4.p. Because they occupy positions near each other, the data for SDQL and PVM were combined. The position of PQR, a third QL descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
WBPhenotype:0000594Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006826PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
Phenotype_assayTreatment"A BDU was scored as defective if its nucleus was posterior to the V1 nucleus."Paper_evidenceWBPaper00026706
Curator_confirmedWBPerson2987
ReferenceWBPaper00026706
MethodSubstitution_allele