Gene Symbol: Rpgrip1l
Description: Rpgrip1-like
Alias: 1700047E16Rik, 4931437C01, Ftm, Nphp8, protein fantom, RPGR-interacting protein 1-like protein, RPGRIP1-like protein, fantom, nephrocystin-8
Species: mouse
Products:     Rpgrip1l

Top Publications

  1. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007;39:875-81 pubmed
    ..Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates ..
  2. Besse L, Neti M, Anselme I, Gerhardt C, Ruther U, Laclef C, et al. Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing. Development. 2011;138:2079-88 pubmed publisher
    ..Here, we study telencephalic morphogenesis in a mouse mutant for the ciliopathy gene Ftm (Rpgrip1l)...
  3. Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U. Ftm is a novel basal body protein of cilia involved in Shh signalling. Development. 2007;134:2569-77 pubmed
    In this study we show in mice that Ftm (Rpgrip1l) is located at the ciliary basal body...
  4. Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
    ..Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. ..
  5. Chen J, Laclef C, Moncayo A, Snedecor E, Yang N, Li L, et al. The ciliopathy gene Rpgrip1l is essential for hair follicle development. J Invest Dermatol. 2015;135:701-709 pubmed publisher
    ..there is a genetic and molecular link between ciliopathies and skin morphogenesis, we investigated the role of RPGRIP1L, a gene mutated in Joubert (JBTS) and Meckel (MKS) syndromes, two severe forms of ciliopathy, in the context of ..
  6. Han Y, Spassky N, Romaguera Ros M, Garcia Verdugo J, Aguilar A, Schneider Maunoury S, et al. Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells. Nat Neurosci. 2008;11:277-84 pubmed publisher
    ..We conclude that Shh signaling, acting through the primary cilia, has a critical role in the expansion and establishment of postnatal hippocampal progenitors. ..
  7. Stratigopoulos G, LeDuc C, Cremona M, Chung W, Leibel R. Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. J Biol Chem. 2011;286:2155-70 pubmed publisher
    ..In an effort to identify the molecular basis for this association, we discovered that FTO and RPGRIP1L (a ciliary gene located in close proximity to the transcriptional start site of FTO) are regulated by isoforms ..
  8. Lieven O, Ruther U. The Dkk1 dose is critical for eye development. Dev Biol. 2011;355:124-37 pubmed publisher
    ..Therefore, our data essentially improve the knowledge of coloboma and anterior eye defects, which are common human eye developmental defects. ..
  9. Ghosh A, Hurd T, Hildebrandt F. 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol. 2012;303:F1225-9 pubmed publisher
    ..Among the 10 different disease-causing genes (NPHP1-NPHP10), mutations in NPHP3, NPHP6, or NPHP8 cause the most severe ciliopathy variants of NPHP, Joubert syndrome, and Meckel Syndrome...

More Information


  1. Peters T, Ausmeier K, Dildrop R, Ruther U. The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster. Mamm Genome. 2002;13:186-8 pubmed
    ..6 Mb of genomic sequences on mouse Chromosome 8. Owing to this deletion, six genes, including the entire IroquoisB (IrxB) gene cluster, are directly affected by the Ft mutation. ..
  2. Kim B, Kim Y, Sakuma R, Hui C, Ruther U, Jorgensen J. Primordial germ cell proliferation is impaired in Fused Toes mutant embryos. Dev Biol. 2011;349:417-26 pubmed publisher
    ..5. The six genes within the Ft locus include the IrxB cluster (Irx3, -5, -6), Fts, Ftm, and Fto, of which only Ftm, Fto, and Fts are expressed in primordial germ cells of the early gonad...
  3. Stratigopoulos G, Padilla S, LeDuc C, Watson E, Hattersley A, McCarthy M, et al. Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol. 2008;294:R1185-96 pubmed publisher
    ..The functions of FTO and adjacent FTM in human biology are not clear...
  4. Mahuzier A, Gaudé H, Grampa V, Anselme I, Silbermann F, Leroux Berger M, et al. Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. J Cell Biol. 2012;198:927-40 pubmed publisher
    ..Here, we identify the function of the ciliopathy protein Rpgrip1l in planar polarity...
  5. Laclef C, Anselme I, Besse L, Catala M, Palmyre A, Baas D, et al. The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor. Hum Mol Genet. 2015;24:4997-5014 pubmed publisher
    ..Here, we report a severe AgCC in Ftm/Rpgrip1l knockout mouse, which provides a valuable model for Meckel-Grüber syndrome...
  6. Gerhardt C, Lier J, Burmühl S, Struchtrup A, Deutschmann K, Vetter M, et al. The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium. J Cell Biol. 2015;210:115-33 pubmed publisher
    Mutations in RPGRIP1L result in severe human diseases called ciliopathies. To unravel the molecular function of RPGRIP1L, we analyzed Rpgrip1l(-/-) mouse embryos, which display a ciliopathy phenotype and die, at the latest, around birth...
  7. Stratigopoulos G, Burnett L, Rausch R, Gill R, Penn D, Skowronski A, et al. Hypomorphism of Fto and Rpgrip1l causes obesity in mice. J Clin Invest. 2016;126:1897-910 pubmed publisher
    ..leading to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L)...
  8. Kim B, Kim Y, Cooke P, Ruther U, Jorgensen J. The fused toes locus is essential for somatic-germ cell interactions that foster germ cell maturation in developing gonads in mice. Biol Reprod. 2011;84:1024-32 pubmed publisher
    ..6 Mb of chromosome 8, which includes the entire IrxB cluster (Irx3, Irx5, Irx6), Ftm, Fts, and Fto genes. Homozygote Ft mutant embryos die around embryonic day 13.5 (E13...
  9. Gerhardt C, Lier J, Kuschel S, Ruther U. The ciliary protein Ftm is required for ventricular wall and septal development. PLoS ONE. 2013;8:e57545 pubmed publisher
    ..We observed perimembranous and muscular VSDs in Fantom (Ftm)-negative mice...
  10. Stratigopoulos G, Martin Carli J, O Day D, Wang L, LeDuc C, Lanzano P, et al. Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metab. 2014;19:767-79 pubmed publisher
    ..CUX1-regulatory element within the implicated FTO region controls expression of FTO and the nearby ciliary gene, RPGRIP1L. Given the role of ciliary genes in energy homeostasis, we hypothesized that mice hypomorphic for Rpgrip1l would ..