分離済み変異体

tm6235

Allele Nametm6235
BalanceNot Required
OutCrossNot Accepted
Sequence NameY49A10A.1
Gene Nameefhc-1
Worm BaseAllele Name tm6235
Gene Name efhc-1
Sequence Y49A10A.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) 6709/6710-7492/7493 (783 bp deletion)
ChromosomeX
Putative gene structurejoin(6061..6251, 6482..7019, 7063..7160, 7204..7313, 7360..7520, 7611..7682, 7732..7877, 7922..8042)
Map position1.98
Balancer
Map position of balancer
Sequence of primersExtFwd:TACCTTTCCATGTAACCCAC,IntFwd:TACCGCGTCGTTTCCGACGT,ExtRev:GACCGTACAATACAGAAGGA,IntRev:ACAGAAGGAGCATCAACCTA
Distributed lab
DepositorDr. S. Mitani/NBRP
References Please submit your publication
Loucks CM, Park K, Walker DS, McEwan AH, Timbers TA, Ardiel EL, Grundy LJ, Li C, Johnson JL, Kennedy J, Blacque OE, Schafer W, Rankin CH, Leroux MR.
EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling.
Elife 2019 8  
[ PubMed ID = 30810526 ] [ RRC reference ]

Loucks CM, Bialas NJ, Dekkers MP, Walker DS, Grundy LJ, Li C, Inglis PN, Kida K, Schafer WR, Blacque OE, Jansen G, Leroux MR.
PACRG, a protein linked to ciliary motility, mediates cellular signaling.
Mol Biol Cell 2016 27(13) 2133-44 
[ PubMed ID = 27193298 ] [ RRC reference ]