Version: 8.0.0
Date: Tue Jan 28 2025
Tcof1
Mus musculusMGI:892003
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Tcof1

Species
Mus musculus
Symbol
Tcof1
Name
treacle ribosome biogenesis factor 1
Synonyms
  • AA408847
  • AW209012
Biotype
protein coding gene
Automated Description
Predicted to enable protein heterodimerization activity and scaffold protein binding activity. Acts upstream of or within nucleolar large rRNA transcription by RNA polymerase I. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Predicted to be active in nucleolus. Is expressed in several structures, including appendicular skeleton; branchial arch; facial prominence; genitourinary system; and neural ectoderm. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome and Treacher Collins syndrome 1. Orthologous to human TCOF1 (treacle ribosome biogenesis factor 1).
MGI Description
PHENOTYPE: Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia. Phenotype penetrance varies depending on strain background. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR20787
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
Phenotype Term
Annotation details
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page

      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page
        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
        Has Disease Annotations
        Has Phenotype Annotations
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            60.950M60.955M60.960M60.965M60.970M60.975M60.980M

            Sequence Details

            Loading...

            Expression

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

            Molecular Interactions

            Tcof1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page

              Genetic Interactions

              Tcof1 role
              Tcof1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
              No records match query. Try removing filters.
              Showing 0 - 0 of 0 rows
              per page