Version: 8.0.0Date: Tue Jan 28 2025
Gene
Acvrl1
- Species
- Mus musculus
- Symbol
- Acvrl1
- Name
- activin A receptor, type II-like 1
- Synonyms
- activin A receptor type II-like kinase 1
- activin receptor-like kinase-1
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including circulatory system development; regulation of endothelial cell differentiation; and regulation of endothelial cell proliferation. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transforming growth factor beta receptor superfamily signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be part of BMP receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain; hereditary hemorrhagic telangiectasia; and obstructive nephropathy. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1).
- MGI Description
- PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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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 | Has Disease Annotations | Has Phenotype Annotations |
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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
- Chr15:101026403...101043217 + (16.81 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.