Gene

Foxc1

Species
Mus musculus
Symbol
Foxc1
Name
forkhead box C1
Synonyms
  • ch
  • congenital hydrocephalus
Biotype
protein coding gene
Automated Description
Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and promoter-specific chromatin binding activity. Involved in several processes, including cell surface receptor signaling pathway; endochondral ossification; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and collagen fibril organization. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and sensory organ. Used to study buphthalmos. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1).
MGI Description
PHENOTYPE: Homozygous mutants are neonatal lethal with congenital hydrocephalus, edema, abnormalities of the eye, skull, axial skeleton, kidney-ureter and cardiovascular systems. Heterozygotes have variable milder defects depending on genetic background. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11829
No data available
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

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Gene
Association
Disease Qualifier
Disease
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    Transgenic Alleles

    Models

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCm39
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    31.9910M31.9915M31.9920M31.9925M31.9930M31.9935M31.9940M31.9945M

    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

    Genetic Interactions