Version: 8.0.0
Date: Tue Jan 28 2025
Cfh
Mus musculusMGI:88385
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cfh

Species
Mus musculus
Symbol
Cfh
Name
complement component factor h
Synonyms
  • AMBP-1
  • AMBP1
Biotype
protein coding gene
Automated Description
Enables complement component C3b binding activity and heparin binding activity. Acts upstream of or within with a positive effect on retina development in camera-type eye. Acts upstream of or within several processes, including complement activation; retina development in camera-type eye; and skeletal system development. Located in several cellular components, including axon; external side of plasma membrane; and neuronal cell body. Is expressed in several structures, including adrenal gland; bone; central nervous system; hemolymphoid system; and metanephros. Used to study age related macular degeneration 4; atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; and membranoproliferative glomerulonephritis. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to human CFH (complement factor H).
MGI Description
PHENOTYPE: Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45785
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Download all Alleles/Variants for all genes of the species

      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Cfh molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Cfh role
            Cfh genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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