Version: 8.0.0
Date: Tue Jan 28 2025
Bmpr1b
Mus musculusMGI:107191
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Bmpr1b

Species
Mus musculus
Symbol
Bmpr1b
Name
bone morphogenetic protein receptor, type 1B
Synonyms
  • activin A receptor type II-like kinase 6
  • Acvrlk6
Biotype
protein coding gene
Automated Description
Enables BMP binding activity; BMP receptor activity; and transforming growth factor beta receptor activity, type I. Involved in several processes, including BMP signaling pathway; ovarian cumulus expansion; and skeletal system development. Acts upstream of or within several processes, including cartilage condensation; neuron differentiation; and positive regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; limb; and sensory organ. Human ortholog(s) of this gene implicated in acromesomelic dysplasia-3; brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Orthologous to human BMPR1B (bone morphogenetic protein receptor type 1B).
MGI Description
PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [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
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    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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      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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          Models

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

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            141.55M141.60M141.65M141.70M141.75M141.80M141.85M

            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

            Bmpr1b molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              Bmpr1b role
              Bmpr1b genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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