WormBase Tree Display for Variation: WBVar02125053
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WBVar02125053 | Evidence | Paper_evidence | WBPaper00040999 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | kc3 | ||||||
Other_name | F42C5.10.1:c.234+1G>A | |||||||
HGVSg | CHROMOSOME_IV:g.7325744C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | F42C5 | ||||
Flanking_sequences | gtgtacgtggaacaaaagttttacagatct | tgagtttttgaaaatgagaaagttgttttt | ||||||
Mapping_target | F42C5 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00040999 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | BJ | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00018350 | ||||||
Transcript | F42C5.10.1 | VEP_consequence | splice_donor_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | F42C5.10.1:c.234+1G>A | |||||||
Intron_number | 4/14 | |||||||
Genetics | Interpolated_map_position | IV | 3.32315 | |||||
Description | Phenotype | WBPhenotype:0000425 | Paper_evidence | WBPaper00040999 | ||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | " To examine the expression of endogenous IFO-1 , antibodies were generated against peptides 1 ( position 19-39 ) and 2 ( position 386-405 ; Fig . 2Bfi ) . These antibodies stained the intestine in the same fashion as the reporters and anti-IFB-2 antibodies ( Fig . 2C- D fl , Fig . 3A-Dfi , Fig . 4A-Afl ) . IFO-1 fluorescence was severely reduced in kc3 ( Fig . 4B-Bfl ) and completely absent in kc2 ( Fig . 4C- C fl ) ." | Paper_evidence | WBPaper00040999 | |||||
Curator_confirmed | WBPerson2987 | |||||||
WBPhenotype:0000679 | Paper_evidence | WBPaper00040999 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | "Alleles kc2 ( strain BJ133 ) and kc3 ( strain BJ134 ) exhibited aberrant IFB-2 : : CFP distribution ( Fig . 1C-F ) . IFB-2 : : CFP was almost absent from the apical domain in kc2 mutants . Instead , it accumulated in the cytoplasm in form of granules and presented a continuous junction- like enrichment at the apical cell-cell borders ( Fig . 1C,D ) . During early morphogenesis ( 1.5-fold stage ) , IFB-2-labeling surrounded the entire intestinal lumen in the WT ( Fig . 1G ) , whereas only fluorescent spots were seen at the apical domain of intestinal cells of kc2 mutants ( Fig . 1J ) . Differences persisted during later embryonal and larval stages when a junction-like IFB-2 distribution developed and multiple cytoplasmic granules appeared in the mutant ( Fig . 1K,L ) . By contrast , perilumenal fluorescence was maintained in the WT throughout ( Fig . 1H,I ) . Cytoplasmic granules were also frequently seen in the WT . In comparison to kc2 mutants , the altered IFB-2 : : CFP phenotype was less prominent in kc3 homozygotes becoming manifest only in young adult worms ( Fig . 1F ) and progressing in older worms . " | Paper_evidence | WBPaper00040999 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Phenotype_assay | Control_strain | WBStrain00042349 | Paper_evidence | WBPaper00040999 | ||||
Curator_confirmed | WBPerson2987 | |||||||
Genotype | kcIs21 [ifb-2::cfp] V | Paper_evidence | WBPaper00040999 | |||||
Curator_confirmed | WBPerson2987 | |||||||
WBPhenotype:0001403 | Paper_evidence | WBPaper00040999 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | "To show that overexpression of the IFB-2 : : CFP reporter is not responsible for the ifo-1 -phenotype , the mutant alleles kc2 and kc3 were outcrossed into the WT background . In the resulting strains , BJ142 ( kc2 ) and BJ143 ( kc3 ) , anti-IFB-2 immunofluorescence showed the same type of mislocalization as in the reporter strains , although the number of cytoplasmic aggregates was slightly reduced ( e.g . Fig . 5B ) ." | Paper_evidence | WBPaper00040999 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Reference | WBPaper00040999 | |||||||
Method | Substitution_allele |