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分離済み変異体

Allele Name		tm5790
Allele Type		通常株
Sequence Name		F38A5.1
Gene Name		odr-8
Worm Base	Allele Name	tm5790
	Gene Name	odr-8
	Sequence	F38A5.1
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)		1385/1386-CAAA-2385/2386 (1000 bp deletion + 4 bp insertion)
Chromosome		IV
Putative gene structure		complement(join(61..211, 262..430, 476..572, 618..799, 1075..1224, 1272..1371, 1419..1576, 1623..1719, 1765..1959, 2011..2192, 2237..2411, 2568..2681))
Map position		3.21
Balancer
Map position of balancer
Sequence of primers		ExtFwd:CCGGGTCTGTCAAGTTGGCA,IntFwd:GTTGGTCAAACGAGCACTCT,ExtRev:CCATATTCAGCTCGCTGGTC,IntRev:TTGGACCAACTCAGATGGCT
Distributed lab
Depositor		Dr. S. Mitani/NBRP
References		Please submit your publication Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H, FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. Am J Hum Genet 2016 99(3) 695-703  [ PubMed ID = 27545681 ] [ RRC reference ]