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Fgfr3 Gene Detail
Summary
  • Symbol
    Fgfr3
  • Name
    fibroblast growth factor receptor 3
  • Synonyms
    Fgfr-3, HBGFR, sam3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95524
    NCBI Gene: 14184
Location & Maps
more
  • Sequence Map
    Chr5:33721674-33737067 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15394 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.83 cM, cytoband B
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FGFR3, fibroblast growth factor receptor 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACH, CD333, CEK2, HSFGFR3EX, JTK4
  • Links
    NCBI Gene ID: 2261
    neXtProt AC: NX_P22607
    UniProt: P22607

  • Chr Location
    4p16.3; chr4:1793299-1808872 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Fgfr3 mouse models; 7 with human FGFR3 associations

Human Disease Mouse Models
      
IDs
View 8 models
IDs
View 6 models
IDs
View 4 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    197 phenotypes from 25 alleles in 23 genetic backgrounds
    35 phenotypes from multigenic genotypes
    14 images
    109 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    39
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    4
  • Spontaneous
    2
  • Targeted
    25
  • Transgenic
    5
  • Genomic Mutations
    8 involving Fgfr3
  • Incidental Mutations
  • Find Mice (IMSR)
Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021524 VEGA Gene Model | MGI Sequence Detail 15394 C57BL/6J ±  kb
transcript OTTMUST00000112075 VEGA | MGI Sequence Detail 4150 Not Applicable  
polypeptide OTTMUSP00000062900 VEGA | MGI Sequence Detail 801 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    51 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 60
    Genomic 4
    cDNA 33
    Primer pair 21
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-9778, MGD-MRK-9783
References
more
  • Summaries
    All 351
    Developmental Gene Expression 184
    Diseases 15
    Gene Ontology 29
    Phenotypes 109
  • Earliest
    J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
  • Latest
    J:240777 Meo Burt P, et al., FGF2 High Molecular Weight Isoforms Contribute to Osteoarthropathy in Male Mice. Endocrinology. 2016 Dec;157(12):4602-4614

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory