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AVAILABLE MUTANTS (ISOLATED)
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Record No. 2452
対立遺伝子 tm2452
Sequence Name Y38F2AL.2
CGC Name mksr-2
Worm Base 対立遺伝子 tm2452
CGC Name mksr-2
Sequence Y38F2AL.2
表現型 homozygous viable. Dr. K. Oegema: non-Dyf.
変異部位 13286/13287-13565/13566 (279 bp deletion)
染色体 IV
遺伝子構造 complement(join(11916..12044, 13118..13302, 13348..13473, 13923..14010))
マップポジション -8.52
バランサ
バランサマップポジション
プライマー配列 ExtRev:GCTTGCATAGCACATAGGTT,IntRev:CGTCTGAGCGAACTTGCAAC,ExtFwd:TTGCTACCAACAGCCATAAG,IntFwd:TCCCTAATGGCTTTAGCGTT
変異体送付先
寄託者 Dr. S. Mitani/NBRP
文献  論文登録
Yee LE, Garcia-Gonzalo FR, Bowie RV, Li C, Kennedy JK, Ashrafi K, Blacque OE, Leroux MR, Reiter JF.
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.
PLoS Genet. 2015 11(11) e1005627 
[ PubMed ID = 26540106 ] [ RRCの論文情報 ]

Brear AG, Yoon J, Wojtyniak M, Sengupta P.
Diverse cell type-specific mechanisms localize G protein-coupled receptors to Caenorhabditis elegans sensory cilia.
Genetics 2014 197(2) 667-84 
[ PubMed ID = 24646679 ] [ RRCの論文情報 ]

Wojtyniak M, Brear AG, O'Halloran DM, Sengupta P.
Cell- and subunit-specific mechanisms of CNG channel ciliary trafficking and localization in C. elegans.
J Cell Sci. 2013 126(Pt 19) 4381-95 
[ PubMed ID = 23886944 ] [ RRCの論文情報 ]

Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE.
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
PLoS Genet. 2013 9(12) e1003977 
[ PubMed ID = 24339792 ] [ RRCの論文情報 ]

Warburton-Pitt SR, Jauregui AR, Li C, Wang J, Leroux MR, Barr MM.
Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins.
J Cell Sci. 2012 125(Pt 11) 2592-603 
[ PubMed ID = 22393243 ] [ RRCの論文情報 ]

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am. J. Hum. Genet. 2011 89(6) 713-30 
[ PubMed ID = 22152675 ] [ RRCの論文情報 ]

Masyukova SV, Winkelbauer ME, Williams CL, Pieczynski JN, Yoder BK.
Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
Hum. Mol. Genet. 2011 20(15) 2942-54 
[ PubMed ID = 21546380 ] [ RRCの論文情報 ]

Ohkura K, Bürglin TR.
Dye-filling of the amphid sheath glia: implications for the functional relationship between sensory neurons and glia in Caenorhabditis elegans.
Biochem. Biophys. Res. Commun. 2011 406(2) 188-93 
[ PubMed ID = 21295547 ] [ RRCの論文情報 ]

Williams CL, Masyukova SV, Yoder BK.
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.
J Am Soc Nephrol. 2010 21(5) 782-93 
[ PubMed ID = 20150540 ] [ RRCの論文情報 ]

Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby LM, Katsanis N, Leroux MR.
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
J Cell Sci. 2009 122(Pt 5) 611-24 
[ PubMed ID = 19208769 ] [ RRCの論文情報 ]

Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ, Yoder BK.
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
Mol. Biol. Cell 2008 19(5) 2154-68 
[ PubMed ID = 18337471 ] [ RRCの論文情報 ]