WormBase Tree Display for Variation: WBVar02146324
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| WBVar02146324 | Evidence | Paper_evidence | WBPaper00048837 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | nu485 | |||||
| Sequence_details | Mapping_target | C29A12 | |||||
| Type_of_mutation | Deletion | ||||||
| SeqStatus | Pending_curation | ||||||
| Variation_type | Allele | ||||||
| Transposon_insertion | |||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00023646 | ||||||
| Laboratory | KP | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00007799 | |||||
| Isolation | Transposon_excision | Mos1 | |||||
| Description | Phenotype | WBPhenotype:0000679 | Paper_evidence | WBPaper00048837 | |||
| Curator_confirmed | WBPerson18607 | ||||||
| Remark | Increased GABA(A) receptor immobilized pool at NMJ (neuromuscular junction); "FRAP analysis suggests that mobility of synaptic GFP-UNC-49B was decreased in nrx-1 mutants. This FRAP defect was rescued by transgenes expressing NRX-1α in motor neurons (Nα) but not those expressing NRX-1β(Nβ)." (Figure 6F,G) | Paper_evidence | WBPaper00048837 | ||||
| Curator_confirmed | WBPerson18607 | ||||||
| WBPhenotype:0002583 | Paper_evidence | WBPaper00048837 | |||||
| Curator_confirmed | WBPerson18607 | ||||||
| Remark | increased mIPSC amplitude at NMJ (neuromuscular junction); "Mean mIPSC (miniature inhibitory post-synaptic currents) amplitude was significantly increased in nrx-1 null mutants (Figure 6A,B), indicating an increased number of functional UNC-49 receptors at synapses." | Paper_evidence | WBPaper00048837 | ||||
| Curator_confirmed | WBPerson18607 | ||||||
| Disease_info | Models_disease | DOID:0060041 | |||||
| Models_disease_in_annotation | WBDOannot00000476 | ||||||
| Reference | WBPaper00048837 | ||||||
| Remark | The nu485 mutation deletes exons 1-20, or 85%, of the nrx-1 coding sequence. | Paper_evidence | WBPaper00048837 | ||||
| Method | Transposon_insertion |
