分離済み変異体

tm1689

Allele Nametm1689
BalanceNot Required
OutCrossNot Accepted
Sequence NameF28F8.6
Gene Nameatx-3
Worm BaseAllele Name tm1689
Gene Name atx-3
Sequence F28F8.6
Phenotype Information from the receiver is posted in the form of a "researcher : phenotype" homozygous viable. Dr. P. Maciel: FASEB J. 21, 1126 (2007).
Mutation site Please see gene structure to locate the deletion in relation to exon(s) 28875/28876-GAAAAA-29535/29536 (660 bp deletion + 6 bp insertion)
ChromosomeV
Putative gene structurecomplement(join(28399..28883, 29029..29183, 29234..29379, 29428..29595))
Map position8.39
Balancer
Map position of balancer
Sequence of primersIntFwd:GCACTAGCTTAAGCTCGAAT,ExtFwd:CTACTCCTCGTGGAGCACTA,ExtRev:GGAGACTTGAAGTCGCCGAA,IntRev:GCGGTGTCGTTATTTCGGAG
Distributed lab
DepositorDr. S. Mitani/NBRP
References Please submit your publication
Herzog LK, Kevei É, Marchante R, Böttcher C, Bindesbøll C, Lystad AH, Pfeiffer A, Gierisch ME, Salomons FA, Simonsen A, Hoppe T, Dantuma NP.
The Machado-Joseph disease deubiquitylase ataxin-3 interacts with LC3C/GABARAP and promotes autophagy.
Aging Cell 2020 19(1) e13051 
[ PubMed ID = 31625269 ] [ RRC reference ]

Fardghassemi Y, Tauffenberger A, Gosselin S, Parker JA.
Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress.
Dis Model Mech 2017 10(12) 1465-1480 
[ PubMed ID = 29061563 ] [ RRC reference ]

Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P.
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.
FASEB J 2007 21(4) 1126-36 
[ PubMed ID = 17234717 ] [ RRC reference ]