Version: 8.0.0
Date: Tue Jan 28 2025
Col1a1
Mus musculusMGI:88467
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Col1a1

Species
Mus musculus
Symbol
Col1a1
Name
collagen, type I, alpha 1
Synonyms
  • Col1a-1
  • Cola-1
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity. An extracellular matrix structural constituent. Involved in cellular response to mechanical stimulus and osteoblast differentiation. Acts upstream of or within several processes, including face morphogenesis; intramembranous ossification; and skeletal system morphogenesis. Located in collagen-containing extracellular matrix; cytoplasm; and extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; limb; and skeleton. Used to study several diseases, including D-2-hydroxyglutaric aciduria; Diamond-Blackfan anemia; hepatocellular carcinoma; lung cancer (multiple); and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
MGI Description
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24023
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
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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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      Transgenic Alleles

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

          Col1a1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Col1a1 role
            Col1a1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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