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Csf1r Gene Detail
Summary
  • Symbol
    Csf1r
  • Name
    colony stimulating factor 1 receptor
  • Synonyms
    CD115, CSF-1R, Csfmr, Fim2, Fim-2, Fms, M-CSFR
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339758
    NCBI Gene: 12978
Location & Maps
more
  • Sequence Map
    Chr18:61105572-61131134 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25563 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.41 cM, cytoband D
  • Mapping Data
    25 experiments
Homology
more
  • Human Ortholog
    CSF1R, colony stimulating factor 1 receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CSF1R, colony stimulating factor 1 receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CD115, C-FMS, CSF-1R, CSFR, FIM2, FMS, HDLS, M-CSF-R
  • Links
    NCBI Gene ID: 1436
    neXtProt AC: NX_P07333

  • Chr Location
    5q32; chr5:150053291-150113372 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Csf1r mouse models; 1 with human CSF1R associations

Human Disease Mouse Models
       Leukoencephalopathy, Hereditary Diffuse, with Spheroids; HDLS   OMIM: 221820 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    77 phenotypes from 3 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    26 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
    6
  • Targeted
    6
  • Incidental Mutations
    APF , CvDC
Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014918 VEGA Gene Model | MGI Sequence Detail 25563 C57BL/6J ±  kb
transcript OTTMUST00000035435 VEGA | MGI Sequence Detail 3870 Not Applicable  
polypeptide OTTMUSP00000015851 VEGA | MGI Sequence Detail 977 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    154 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 59
    Genomic 8
    cDNA 40
    Primer pair 7
    Other 4

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-2192, MGD-MRK-9798, MGD-MRK-9845, MGI:2147208, MGI:88535
References
more
  • Summaries
    All 164
    Developmental Gene Expression 42
    Diseases 1
    Gene Ontology 19
    Phenotypes 26
  • Earliest
    J:6867 Muller R, et al., Differential expression of cellular oncogenes during pre- and postnatal development of the mouse. Nature. 1982 Oct 14;299(5884):640-4
  • Latest
    J:229257 Gu Z, et al., Expression of the immunoglobulin superfamily cell adhesion molecules in the developing spinal cord and dorsal root ganglion. PLoS One. 2015;10(3):e0121550

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
09/20/2016
MGI 6.05
The Jackson Laboratory