Home > 分離済み変異体 > tm3223

分離済み変異体

Allele Name		tm3223
Balance		Not Required
OutCross		Not Accepted
Sequence Name		K02G10.8
Gene Name		dnj-14
Worm Base	Allele Name	tm3223
	Gene Name	dnj-14
	Sequence	K02G10.8
Phenotype Information from the receiver is posted in the form of a "researcher : phenotype"		homozygous viable.
Mutation site Please see gene structure to locate the deletion in relation to exon(s)		37035/37036-AAA-37266/37267 (231 bp deletion + 3 bp insertion)
Chromosome		X
Putative gene structure		complement(join(36850..36856, 36911..37384, 38166..38332))
Map position		-6.84
Balancer
Map position of balancer
Sequence of primers		IntRev:CAGAGCGTATCGCAAACTAG,ExtRev:GTTCAGGGAGAGACCAATAG,ExtFwd:GCTCTCAACAGACCCATACT,IntFwd:GGAGGCATGGCAATCACAAT
Distributed lab
Depositor		Dr. S. Mitani/NBRP
References		Please submit your publication Barker E, Morgan A, Barclay JW. A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic. Hum Mol Genet 2023 32(11) 1772-1785  [ PubMed ID = 36282524 ] [ RRC reference ] Mulcahy B, Ibbett P, Holden-Dye L, O'Connor V. The Caenorhabditis elegans cysteine-string protein homologue DNJ-14 is dispensable for neuromuscular junction maintenance across ageing. J Exp Biol 2019 222(Pt 22)   [ PubMed ID = 31624097 ] [ RRC reference ] Chen X, McCue HV, Wong SQ, Kashyap SS, Kraemer BC, Barclay JW, Burgoyne RD, Morgan A. Ethosuximide ameliorates neurodegenerative disease phenotypes by modulating DAF-16/FOXO target gene expression. Mol Neurodegener 2015 10 51  [ PubMed ID = 26419537 ] [ RRC reference ] McCue HV, Chen X, Barclay JW, Morgan A, Burgoyne RD. Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. Sci Rep 2015 5 14392  [ PubMed ID = 26395859 ] [ RRC reference ] Kashyap SS, Johnson JR, McCue HV, Chen X, Edmonds MJ, Ayala M, Graham ME, Jenn RC, Barclay JW, Burgoyne RD, Morgan A. Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol. Hum Mol Genet 2014 23(22) 5916-27  [ PubMed ID = 24947438 ] [ RRC reference ]