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WormBase Tree Display for Variation: WBVar02141272

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Name Class

WBVar02141272EvidencePaper_evidenceWBPaper00045993
NamePublic_namerp13
Other_nameK11G9.4.1:c.530_646-28del
HGVSgCHROMOSOME_V:g.6679900_6680416del
Sequence_detailsSMapS_parentSequenceK11G9
Flanking_sequencesgacaaaagattgacgagattccaaatgtcaaacacacaatttgctccatttttgcaggtg
Mapping_targetK11G9
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryRJP
StatusLive
AffectsGeneWBGene00001210
TranscriptK11G9.4.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScK11G9.4.1:c.530_646-28del
cDNA_position536-?
CDS_position530-?
Protein_position177-?
Intron_number5/6
Exon_number5/7
GeneticsInterpolated_map_positionV0.132674
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
WBPhenotype:0000134Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
Remarkloss of egl-46 affected the expression of gcy-9, gcy-31 and flp-19, indicating that egl-46 expression is required for both O2 and CO2 aspects of BAG cell fatePaper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006825PATO:0000460Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
WBPhenotype:0001278Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
Remarkmutants exhibited partial loss of gcy-33prom::GFP expression (a marker for BAG neurons); however, egl-46 does not affect the expression of ets-5 or egl-13 reportersPaper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006825PATO:0000460Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
WBPhenotype:0001765Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
Remarkegl-46 mutant animals show a reduced response to 1% CO2 with regard to change of speed and omega turns.Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
we observed a defect in the ability of egl-46 mutant animals to respond to an O2 downshift from 21% O2 to 17% O2 but not to an O2 upshift from 17% O2 to 21% O2 (Figure 3). However, egl-46 mutant animals exhibit a similar response compared to wild-type animals with regard to change of speed and v-turns in response to an O2 downshift from 21% O2 to 10% O2 (BAG- mediated behavior) and O2 upshift from 10% O2 to 21% O2 (URX-mediated behavior) (Zimmer et al. 2009) (Figure S3).Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006825PATO:0000460Paper_evidenceWBPaper00045993
Curator_confirmedWBPerson712
ReferenceWBPaper00045993
MethodDeletion_allele