Gene

Acvr1

Species
Mus musculus
Symbol
Acvr1
Name
activin A receptor, type 1
Synonyms
  • activin A receptor type II-like kinase 2
  • activin receptor
Biotype
protein coding gene
Automated Description
Enables activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including BMP signaling pathway; heart development; and positive regulation of SMAD protein signal transduction. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including alimentary system; brain; limb; male reproductive gland or organ; and sensory organ. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1).
MGI Description
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23255
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

        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
            58.34M58.36M58.38M58.40M58.42M58.44M

            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

            Acvr1 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

              Acvr1 role
              Acvr1 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