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HPMR

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Colony-stimulating Factor 1 Receptor OKDB#: 2144
 Symbols: CSF1R Species: human
 Synonyms: ONCOGENE FMS, FMS|V-FMS MCDONOUGH FELINE SARCOMA VIRAL ONCOGENE HOMOLOG, FORMERLY|FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF, INCLUDED, FIM2, INCLUDED  Locus: 5q33.2-q33.3 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction.
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte, Granulosa
Comment Salmassi A, et al. (2004) reported that granulocyte colony-stimulating factor and its receptor were expressed by GCs, which was detected by immunostaining. Conditional deletion of the colony stimulating factor-1 receptor (c-fms proto-oncogene) in mice. Li J et al. Colony stimulating factor-1 (CSF-1) is the primary regulator of the mononuclear phagocytic lineage acting through its transmembrane tyrosine kinase receptor, CSF-1R, that is the product of the c-fms proto-oncogene. Null mutations in either the ligand or the receptor genes result in a severe osteopetrosis as well as a number of other phenotypes, including reproductive defects and perturbations in organ development. The CSF-1R is also expressed in oocytes, myoblast progenitors, decidual, and trophoblastic cells. To distinguish cell type specific phenotypes, we have created a conditional allele of the Csf1r by placing LoxP sites around Exon 5 of the Csf1r gene in mice. Excision of this floxed sequence results in a null allele that in the homozygous state gives a phenotype indistinguishable of the complete Csf1r null mutant mouse. This conditional allele will prove extremely valuable to study the spatial and temporal roles of CSF-1R. genesis 44:328-335, 2006. (c) 2006 Wiley-Liss, Inc.
Follicle stages
Comment This gene was found in a mouse DNA array analysis of transcripts expressed in mouse preovulatory follicles.
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Oct. 13, 2003, 3:51 p.m. by: xin   email:
home page:
last update: July 12, 2006, 10:45 a.m. by: hsueh    email:



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