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Fgfr1 Gene Detail
Summary
  • Symbol
    Fgfr1
  • Name
    fibroblast growth factor receptor 1
  • Synonyms
    Eask, Fgfr-1, FGFR-I, Flt-2, Hspy
  • Feature Type
    protein coding gene
  • IDs
    MGI:95522
    NCBI Gene: 14182
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:25513654-25575718 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.12 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    240 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95522
 protein coding gene Chr8:25513623-25575718 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033481
 protein coding gene Chr8:23559098-23626351 (+)
A/J MGP_AJ_G0033461
 protein coding gene Chr8:22713243-22775790 (+)
AKR/J MGP_AKRJ_G0033386
 protein coding gene Chr8:23460369-23524207 (+)
BALB/cJ MGP_BALBcJ_G0033457
 protein coding gene Chr8:22860083-22923016 (+)
C3H/HeJ MGP_C3HHeJ_G0033171
 protein coding gene Chr8:23676717-23742627 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033973
 protein coding gene Chr8:24525860-24588986 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030923
 protein coding gene Chr8:19986550-20049275 (+)
CAST/EiJ MGP_CASTEiJ_G0032497
 protein coding gene Chr8:23110536-23179888 (+)
CBA/J MGP_CBAJ_G0033146
 protein coding gene Chr8:25475602-25544552 (+)
DBA/2J MGP_DBA2J_G0033301
 protein coding gene Chr8:22686163-22747994 (+)
FVB/NJ MGP_FVBNJ_G0033245
 protein coding gene Chr8:22490718-22554574 (+)
LP/J MGP_LPJ_G0033390
 protein coding gene Chr8:23544433-23613250 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033288
 protein coding gene Chr8:24939812-25005362 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033992
 protein coding gene Chr8:23398185-23463798 (+)
PWK/PhJ MGP_PWKPhJ_G0032208
 protein coding gene Chr8:22319448-22385436 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032042
 protein coding gene Chr8:22766955-22830709 (+)
WSB/EiJ MGP_WSBEiJ_G0032613
 protein coding gene Chr8:23617285-23683042 (+)



Homology
more
  • Human Ortholog
    FGFR1, fibroblast growth factor receptor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FGFR1, fibroblast growth factor receptor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BFGFR, bFGF-R-1, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT2, FLT-2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD
  • Links
    NCBI Gene ID: 2260
    neXtProt AC: NX_P11362
    UniProt: P11362

  • Chr Location
    8p11.23; chr8:38411138-38468834 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Fgfr1 mouse models; 2 with human FGFR1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    252 phenotypes from 36 alleles in 38 genetic backgrounds
    82 phenotypes from multigenic genotypes
    5 images
    185 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    143
  • GO References
    42
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    924
  • Tissues
    559
  • cDNA Data
    237
  • Literature Summary
    257
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031565 Ensembl Gene Model | MGI Sequence Detail 62065 C57BL/6J ±  kb
    transcript ENSMUST00000179592 Ensembl | MGI Sequence Detail 5041 Not Applicable  
    polypeptide ENSMUSP00000136640 Ensembl | MGI Sequence Detail 833 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 285
      Genomic 12
      cDNA 243
      Primer pair 27
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9776, MGD-MRK-9781, MGD-MRK-9833, MGI:2142774, MGI:2662561, MGI:3836280
    References
    more
    • Summaries
      All 539
      Developmental Gene Expression 257
      Diseases 7
      Gene Ontology 42
      Phenotypes 185
    • Earliest
      J:29471 Ruta M, et al., Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG). Proc Natl Acad Sci U S A. 1989 Nov;86(22):8722-6
    • Latest
      J:266273 Honda A, et al., FGFR1-mediated protocadherin-15 loading mediates cargo specificity during intraflagellar transport in inner ear hair-cell kinocilia. Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):8388-8393
    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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    01/08/2019
    MGI 6.13     		The Jackson Laboratory