RGD Reference Report - Arteriovenous malformations in mice lacking activin receptor-like kinase-1. - Rat Genome Database

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Arteriovenous malformations in mice lacking activin receptor-like kinase-1.

Authors: Urness, LD  Sorensen, LK  Li, DY 
Citation: Urness LD, etal., Nat Genet 2000 Nov;26(3):328-31.
RGD ID: 1300250
Pubmed: PMID:11062473   (View Abstract at PubMed)
DOI: DOI:10.1038/81634   (Journal Full-text)

The mature circulatory system is comprised of two parallel, yet distinct, vascular networks that carry blood to and from the heart. Studies have suggested that endothelial tubes are specified as arteries and veins at the earliest stages of angiogenesis, before the onset of circulation. To understand the molecular basis for arterial-venous identity, we have focused our studies on a human vascular dysplasia, hereditary haemorrhagic telangiectasia (HHT), wherein arterial and venous beds fail to remain distinct. Genetic studies have demonstrated that HHT can be caused by loss-of-function mutations in the gene encoding activin receptor-like kinase-1 (ACVRL1; ref. 5). ACVRL1 encodes a type I receptor for the TGF-beta superfamily of growth factors. At the earliest stage of vascular development, mice lacking Acvrl1 develop large shunts between arteries and veins, downregulate arterial Efnb2 and fail to confine intravascular haematopoiesis to arteries. These mice die by mid-gestation with severe arteriovenous malformations resulting from fusion of major arteries and veins. The early loss of anatomical, molecular and functional distinctions between arteries and veins indicates that Acvrl1 is required for developing distinct arterial and venous vascular beds.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ACVRL1Humanarteriovenous malformation  ISOAcvrl1 (Mus musculus) RGD 
Acvrl1Ratarteriovenous malformation  ISOAcvrl1 (Mus musculus) RGD 
Acvrl1Mousearteriovenous malformation  IMP  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Acvrl1  (activin A receptor like type 1)

Genes (Mus musculus)
Acvrl1  (activin A receptor, type II-like 1)

Genes (Homo sapiens)
ACVRL1  (activin A receptor like type 1)

Objects referenced in this article
Gene Cd34 CD34 antigen Mus musculus
Gene Efnb2 ephrin B2 Mus musculus

Additional Information