Gene Symbol: Fgfr3
Description: fibroblast growth factor receptor 3
Alias: CD333, FR3, Fgfr-3, Flg-2, HBGFR, Mfr3, sam3, fibroblast growth factor receptor 3, heparin-binding growth factor receptor
Species: mouse
Products:     Fgfr3

Top Publications

  1. Peters K, Ornitz D, Werner S, Williams L. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol. 1993;155:423-30 pubmed
    ..In the present study, we used in situ hybridization analysis to show that FGFR3 also has a unique pattern of expression during organogenesis...
  2. Govindarajan V, Overbeek P. Secreted FGFR3, but not FGFR1, inhibits lens fiber differentiation. Development. 2001;128:1617-27 pubmed
    ..we have generated transgenic mice with ocular expression of secreted self-dimerizing versions of FGFR1 (FR1) and FGFR3 (FR3)...
  3. Chen J, Williams I, Lee B, Duclos N, Huntly B, Donoghue D, et al. Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation. Blood. 2005;106:328-37 pubmed
    Ectopic expression of fibroblast growth factor receptor 3 (FGFR3) associated with t(4;14) has been implicated in the pathogenesis of human multiple myeloma...
  4. Iwata T, Li C, Deng C, Francomano C. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. Hum Mol Genet. 2001;10:1255-64 pubmed
    Several gain-of-function mutations in a receptor tyrosine kinase, fibroblast growth factor receptor 3 (FGFR3), cause dwarfism in humans...
  5. Hayashi T, Ray C, Younkins C, Bermingham McDonogh O. Expression patterns of FGF receptors in the developing mammalian cochlea. Dev Dyn. 2010;239:1019-26 pubmed publisher
    ..We compare the receptor expression pattern to markers of the sensory domain (p27kip1) and the early hair cells (math1). ..
  6. Bowles J, Feng C, Spiller C, Davidson T, Jackson A, Koopman P. FGF9 suppresses meiosis and promotes male germ cell fate in mice. Dev Cell. 2010;19:440-9 pubmed publisher
  7. Hayashi T, Cunningham D, Bermingham McDonogh O. Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti. Dev Dyn. 2007;236:525-33 pubmed
    ..At late stages of cochlear development, Fgfr3 is necessary for the development of the tunnel of Corti...
  8. Shim K, Minowada G, Coling D, Martin G. Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling. Dev Cell. 2005;8:553-64 pubmed
    ..Our results provide evidence that antagonism of FGF signaling by SPRY2 is essential for establishing the cytoarchitecture of the organ of Corti and for hearing. ..
  9. Naski M, Wang Q, Xu J, Ornitz D. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet. 1996;13:233-7 pubmed
    ..a graded spectrum of phenotypic severity and are the result of distinct missense mutations in the fibroblast growth factor receptor 3 gene (FGFR3)...

More Information


  1. Rice D, Aberg T, Chan Y, Tang Z, Kettunen P, Pakarinen L, et al. Integration of FGF and TWIST in calvarial bone and suture development. Development. 2000;127:1845-55 pubmed
    Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency...
  2. Tarkkonen K, Nilsson E, Kähkönen T, Dey J, Heikkilä J, Tuomela J, et al. Differential roles of fibroblast growth factor receptors (FGFR) 1, 2 and 3 in the regulation of S115 breast cancer cell growth. PLoS ONE. 2012;7:e49970 pubmed publisher
    ..3 were created by lentiviral gene transfer, resulting in cells with downregulated expression of FGFR1, FGFR2 or FGFR3 (shR1, shR2 and shR3 cells, respectively) and shLacZ controls...
  3. Arnaud Dabernat S, Yadav D, Sarvetnick N. FGFR3 contributes to intestinal crypt cell growth arrest. J Cell Physiol. 2008;216:261-8 pubmed publisher
    ..Among FGF receptors, FGFR3 expression is confined in the intestinal crypts...
  4. Chen L, Li C, Qiao W, Xu X, Deng C. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Hum Mol Genet. 2001;10:457-65 pubmed
    Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several types of human skeletal dysplasia, including the neonatally lethal dwarfism known as thanatophoric dysplasia...
  5. Hayashi T, Ray C, Bermingham McDonogh O. Fgf20 is required for sensory epithelial specification in the developing cochlea. J Neurosci. 2008;28:5991-9 pubmed publisher
    ..Our results thus define the period of FGF-dependent sensory cell specification and the ligand that mediates this step in cochlear development. ..
  6. Li C, Chen L, Iwata T, Kitagawa M, Fu X, Deng C. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet. 1999;8:35-44 pubmed
    Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia...
  7. Garel S, Huffman K, Rubenstein J. Molecular regionalization of the neocortex is disrupted in Fgf8 hypomorphic mutants. Development. 2003;130:1903-14 pubmed
    ..Overall, our study demonstrates the role of endogenous Fgf8 in regulating early gradients of transcription factors in cortical progenitor cells and in molecular regionalization of the cortical plate. ..
  8. Vidrich A, Buzan J, Ilo C, Bradley L, Skaar K, Cohn S. Fibroblast growth factor receptor-3 is expressed in undifferentiated intestinal epithelial cells during murine crypt morphogenesis. Dev Dyn. 2004;230:114-23 pubmed
    ..These data suggest that signaling through FGFR-3 plays a role in regulating morphogenic events involved in formation of intestinal crypts and/or the fate of epithelial stem cells. ..
  9. Lin Y, Chen L, Lin C, Luo Y, Tsai R, Wang F. Neuron-derived FGF9 is essential for scaffold formation of Bergmann radial fibers and migration of granule neurons in the cerebellum. Dev Biol. 2009;329:44-54 pubmed publisher
    ..This work demonstrates that granule neurons secrete FGF9 to control formation of the Bergmann fiber scaffold, which in turn, guides their own inward migration and maturation of Purkinje cells. ..
  10. Zhao H, Yang T, Madakashira B, Thiels C, Bechtle C, Garcia C, et al. Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation. Dev Biol. 2008;318:276-88 pubmed publisher
    ..FGF receptors (Fgfr1-3) early in lens development demonstrated that expression of only a single allele of Fgfr2 or Fgfr3 was sufficient for grossly normal lens development, while mice possessing only a single Fgfr1 allele developed ..
  11. Wuechner C, Nordqvist A, Winterpacht A, Zabel B, Schalling M. Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse. Int J Dev Biol. 1996;40:1185-8 pubmed
    ..The FGFR3 gene encodes two splice variants because of the mutually exclusive use of the exons IIIb and IIIc...
  12. Muzio L, Di Benedetto B, DiBenedetto B, Stoykova A, Boncinelli E, Gruss P, et al. Emx2 and Pax6 control regionalization of the pre-neuronogenic cortical primordium. Cereb Cortex. 2002;12:129-39 pubmed
  13. Mueller K, Jacques B, Kelley M. Fibroblast growth factor signaling regulates pillar cell development in the organ of corti. J Neurosci. 2002;22:9368-77 pubmed
    ..cell development have not been determined; however, previous results suggested a key role for fibroblast growth factor receptor 3 (FGFR3)...
  14. Valverde Franco G, Binette J, Li W, Wang H, Chai S, Laflamme F, et al. Defects in articular cartilage metabolism and early arthritis in fibroblast growth factor receptor 3 deficient mice. Hum Mol Genet. 2006;15:1783-92 pubmed
    ..In the current studies, we show that the absence of signaling through Fgfr3 in the joints of Fgfr3(-/-) mice leads to premature cartilage degeneration and early arthritis...
  15. Valverde Franco G, Liu H, Davidson D, Chai S, Valderrama Carvajal H, Goltzman D, et al. Defective bone mineralization and osteopenia in young adult FGFR3-/- mice. Hum Mol Genet. 2004;13:271-84 pubmed
    Mutations that cause constitutive activation of fibroblast growth factor receptor 3 (FGFR3) result in skeletal disorders that are characterized by short-limbed dwarfism and premature closure of cranial sutures...
  16. Iwata T, Chen L, Li C, Ovchinnikov D, Behringer R, Francomano C, et al. A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos. Hum Mol Genet. 2000;9:1603-13 pubmed
    We have generated the first mouse model of fibro-blast growth factor receptor 3 (Fgfr3) with the K644E mutation, which accurately reflects the embryonic onset of a neonatal lethal dwarfism, thanatophoric dysplasia type II (TDII)...
  17. Jacques B, Montcouquiol M, Layman E, Lewandoski M, Kelley M. Fgf8 induces pillar cell fate and regulates cellular patterning in the mammalian cochlea. Development. 2007;134:3021-9 pubmed
    ..PCs are required for auditory function, as mice lacking PCs owing to a mutation in Fgfr3 are deaf...
  18. Weinstein M, Xu X, Ohyama K, Deng C. FGFR-3 and FGFR-4 function cooperatively to direct alveogenesis in the murine lung. Development. 1998;125:3615-23 pubmed
    ..These data revealed a cooperative function of FGFR-3 and FGFR-4 to promote the formation of alveoli during postnatal lung development. ..
  19. Deng C, Wynshaw Boris A, Zhou F, Kuo A, Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell. 1996;84:911-21 pubmed
    ..We have identified a role for fibroblast growth factor receptor 3 (FGFR-3) in this process by disrupting the murine Fgfr-3 gene to produce severe and progressive ..
  20. Johnson D, Iseki S, Wilkie A, Morriss Kay G. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for twist in suture initiation and biogenesis. Mech Dev. 2000;91:341-5 pubmed
    ..Twist expression domains show some overlap with those of Fgfr2, which is expressed in the most immature (proliferating) osteogenic tissue. ..
  21. Blak A, Naserke T, Weisenhorn D, Prakash N, Partanen J, Wurst W. Expression of Fgf receptors 1, 2, and 3 in the developing mid- and hindbrain of the mouse. Dev Dyn. 2005;233:1023-30 pubmed
    ..in early vertebrate development have shown that Fgfr1 is expressed along the entire neural tube, whereas Fgfr2 and Fgfr3 expression has been shown to spare the tissue adjacent to the MHO...
  22. Logie A, Dunois Lardé C, Rosty C, Levrel O, Blanche M, Ribeiro A, et al. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Hum Mol Genet. 2005;14:1153-60 pubmed
    ..Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias...
  23. Thomson R, Pellicano F, Iwata T. Fibroblast growth factor receptor 3 kinase domain mutation increases cortical progenitor proliferation via mitogen-activated protein kinase activation. J Neurochem. 2007;100:1565-78 pubmed
    We have previously shown that mice carrying the K644E kinase domain mutation in fibroblast growth factor receptor 3 (Fgfr3) (EIIa;Fgfr3(+/K644E)) have enlarged brains with increased proliferation and decreased apoptosis of the cortical ..
  24. Mansour S, Twigg S, Freeland R, Wall S, Li C, Wilkie A. Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet. 2009;18:43-50 pubmed publisher
    The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome...
  25. Coumoul X, Shukla V, Li C, Wang R, Deng C. Conditional knockdown of Fgfr2 in mice using Cre-LoxP induced RNA interference. Nucleic Acids Res. 2005;33:e102 pubmed
    ..This method provides a fast, yet efficient way to decipher gene functions in vivo in a tissue-specific manner. ..
  26. Kettunen P, Karavanova I, Thesleff I. Responsiveness of developing dental tissues to fibroblast growth factors: expression of splicing alternatives of FGFR1, -2, -3, and of FGFR4; and stimulation of cell proliferation by FGF-2, -4, -8, and -9. Dev Genet. 1998;22:374-85 pubmed
    ..Both splice forms of FGFR3 were expressed in dental papilla mesenchyme...
  27. Furusho M, Kaga Y, Ishii A, Hebert J, Bansal R. Fibroblast growth factor signaling is required for the generation of oligodendrocyte progenitors from the embryonic forebrain. J Neurosci. 2011;31:5055-66 pubmed publisher
    ..FGF signaling, through cooperation between Fgfr1 and Fgfr2 but not Fgfr3, is required for the initial generation of OLPs in the mouse ventral forebrain, with Fgfr1 being a stronger ..
  28. Chen L, Adar R, Yang X, Monsonego E, Li C, Hauschka P, et al. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J Clin Invest. 1999;104:1517-25 pubmed
    Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia...
  29. Schmahl J, Kim Y, Colvin J, Ornitz D, Capel B. Fgf9 induces proliferation and nuclear localization of FGFR2 in Sertoli precursors during male sex determination. Development. 2004;131:3627-36 pubmed
    ..The nuclear localization of FGFR2 coincides with the initiation of Sry expression and the nuclear localization of SOX9 during the early differentiation of Sertoli cells and the determination of male fate. ..
  30. Ohbayashi N, Shibayama M, Kurotaki Y, Imanishi M, Fujimori T, Itoh N, et al. FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis. Genes Dev. 2002;16:870-9 pubmed
    ..Disruption of Fgfr3 results in prolonged growth of long bones and vertebrae...
  31. Arnaud Dabernat S, Kritzik M, Kayali A, Zhang Y, Liu G, Ungles C, et al. FGFR3 is a negative regulator of the expansion of pancreatic epithelial cells. Diabetes. 2007;56:96-106 pubmed
    ..Although FGFR3 is a crucial developmental gene, acting as a negative regulator of bone formation, its participation remains ..
  32. Puligilla C, Feng F, Ishikawa K, Bertuzzi S, Dabdoub A, Griffith A, et al. Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment. Dev Dyn. 2007;236:1905-17 pubmed
    Deletion of fibroblast growth factor receptor 3 (Fgfr3) leads to hearing impairment in mice due to defects in the development of the organ of Corti, the sensory epithelium of the Cochlea...
  33. Muenke M, Schell U. Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet. 1995;11:308-13 pubmed
    ..Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development. ..
  34. Colvin J, Bohne B, Harding G, McEwen D, Ornitz D. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet. 1996;12:390-7 pubmed
    b>Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal cord. Achondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3...
  35. Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt K, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem. 2006;281:6120-3 pubmed
    ..Thus, Klotho functions as a cofactor essential for activation of FGF signaling by FGF23. ..
  36. Wang Y, Spatz M, Kannan K, Hayk H, Avivi A, Gorivodsky M, et al. A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci U S A. 1999;96:4455-60 pubmed
    ..is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3)...
  37. Gutin G, Fernandes M, Palazzolo L, Paek H, Yu K, Ornitz D, et al. FGF signalling generates ventral telencephalic cells independently of SHH. Development. 2006;133:2937-46 pubmed
    ..First, simultaneous deletion of Fgfr1 and Fgfr3 specifically in the telencephalon results in the loss of differentiated ventromedial cells; and second, in the ..
  38. Pringle N, Yu W, Howell M, Colvin J, Ornitz D, Richardson W. Fgfr3 expression by astrocytes and their precursors: evidence that astrocytes and oligodendrocytes originate in distinct neuroepithelial domains. Development. 2003;130:93-102 pubmed
    The postnatal central nervous system (CNS) contains many scattered cells that express fibroblast growth factor receptor 3 transcripts (Fgfr3)...
  39. Mott N, Chung W, Tsai P, Pak T. Differential fibroblast growth factor 8 (FGF8)-mediated autoregulation of its cognate receptors, Fgfr1 and Fgfr3, in neuronal cell lines. PLoS ONE. 2010;5:e10143 pubmed publisher
    ..We tested whether FGF8 could autoregulate two of its cognate receptors, Fgfr1 and Fgfr3, in three murine cell lines with different lineages: fibroblast-derived cells (3T3 cells), neuronal cells derived ..
  40. Faedo A, Tomassy G, Ruan Y, Teichmann H, Krauss S, Pleasure S, et al. COUP-TFI coordinates cortical patterning, neurogenesis, and laminar fate and modulates MAPK/ERK, AKT, and beta-catenin signaling. Cereb Cortex. 2008;18:2117-31 pubmed publisher
    ..We suggest that COUP-TFI controls these processes by repressing Mapk/Erk, Akt, and beta-catenin signaling. ..
  41. Wiedemann M, Trueb B. The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein. Biochim Biophys Acta. 2001;1520:247-50 pubmed
    ..The gene for Fgfrl1 comprises six exons and is located on mouse chromosome 5 in close proximity to the Idua gene for L-iduronidase. ..
  42. Wang Q, Green R, Zhao G, Ornitz D. Differential regulation of endochondral bone growth and joint development by FGFR1 and FGFR3 tyrosine kinase domains. Development. 2001;128:3867-76 pubmed
    ..In several cultured cell lines, FGFR1 transmits a potent mitogenic signal, whereas FGFR3 has little or no mitogenic activity...
  43. Fukuchi Shimogori T, Grove E. Emx2 patterns the neocortex by regulating FGF positional signaling. Nat Neurosci. 2003;6:825-31 pubmed
    ..These findings begin to clarify the signaling network that patterns the neocortical area map. ..
  44. Smits P, Li P, Mandel J, Zhang Z, Deng J, Behringer R, et al. The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Dev Cell. 2001;1:277-90 pubmed
    ..L-Sox5 and Sox6 are thus redundant, potent enhancers of chondroblast functions, thereby essential for endochondral skeleton formation. ..
  45. Iseki S, Wilkie A, Morriss Kay G. Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault. Development. 1999;126:5611-20 pubmed
    ..receptors (FGFRs) play major roles in skeletogenesis, and activating mutations of the human FGFR1, FGFR2 and FGFR3 genes cause premature fusion of the skull bones (craniosynostosis)...
  46. Pirvola U, Ylikoski J, Trokovic R, Hebert J, McConnell S, Partanen J. FGFR1 is required for the development of the auditory sensory epithelium. Neuron. 2002;35:671-80 pubmed
    ..Our data also suggest that FGFR1 might have a distinct later role in intercellular signaling within the differentiating auditory sensory epithelium. ..
  47. Nie X. Apoptosis, proliferation and gene expression patterns in mouse developing tongue. Anat Embryol (Berl). 2005;210:125-32 pubmed
    ..Fgf2 was seen in the tongue muscles at the late embryonic and postnatal stages. These results suggest that Bmp and Fgf signalling regulates tongue development at multiple stages, possibly related to proliferation and differentiation. ..
  48. Hebert J, Lin M, Partanen J, Rossant J, McConnell S. FGF signaling through FGFR1 is required for olfactory bulb morphogenesis. Development. 2003;130:1101-11 pubmed
    ..Together the results demonstrate an essential role for Fgfr1 in patterning and morphogenesis of the telencephalon. ..
  49. Chellaiah A, McEwen D, Werner S, Xu J, Ornitz D. Fibroblast growth factor receptor (FGFR) 3. Alternative splicing in immunoglobulin-like domain III creates a receptor highly specific for acidic FGF/FGF-1. J Biol Chem. 1994;269:11620-7 pubmed
    ..We have identified an alternatively spliced form of the FGFR3 mRNA, corresponding to known splice variants of FGFRs 1 and 2...
  50. Eswarakumar V, Schlessinger J. Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3. Proc Natl Acad Sci U S A. 2007;104:3937-42 pubmed
    b>Fibroblast growth factor receptor 3 (FGFR3) plays an important role in the control of chondrocyte proliferation and differentiation, a process critical for normal development of the skeleton...
  51. Chung W, Moyle S, Tsai P. Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology. 2008;149:4997-5003 pubmed publisher
    ..GnRH neurons express both FGFR1 and -3; thus, it is also unclear whether FGFR1 or FGFR3 contributes directly to GnRH system development...
  52. Garofalo S, Kliger Spatz M, Cooke J, Wolstin O, Lunstrum G, Moshkovitz S, et al. Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. J Bone Miner Res. 1999;14:1909-15 pubmed
    Mutations in fibroblast growth factor receptor 3 (FGFR3) cause several human chondrodysplasias, including achondroplasia, the most common form of dwarfism in humans...
  53. Naski M, Colvin J, Coffin J, Ornitz D. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development. 1998;125:4977-88 pubmed
    b>Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal growth and activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of dwarfism in humans...