PUBLICATION
Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels
- Authors
- Roman, B.L., Pham, V., Lawson, N.D., Kulik, M., Childs, S., Lekven, A.C., Garrity, D.M., Moon, R.T., Fishman, M.C., Lechleider, R.J., and Weinstein, B.M.
- ID
- ZDB-PUB-020820-13
- Date
- 2002
- Source
- Development (Cambridge, England) 129(12): 3009-3019 (Journal)
- Registered Authors
- Childs, Sarah J., Fishman, Mark C., Garrity, Deborah, Lawson, Nathan, Lekven, Arne, Moon, Randall T., Pham, Van, Roman, Beth, Weinstein, Brant M.
- Keywords
- Acvrl1; hereditary hemorrhagic telangiectasia; endothelium; angiogenesis; zebrafish; violet beauregard
- MeSH Terms
-
- Activin Receptors/genetics*
- Activin Receptors/metabolism*
- Amino Acid Sequence
- Animals
- Animals, Genetically Modified
- PubMed
- 12050147 Full text @ Development
Abstract
The zebrafish mutant violet beauregarde (vbg) can be identified at two days post-fertilization by an abnormal circulation pattern in which most blood cells flow through a limited number of dilated cranial vessels and fail to perfuse the trunk and tail. This phenotype cannot be explained by caudal vessel abnormalities or by a defect in cranial vessel patterning, but instead stems from an increase in endothelial cell number in specific cranial vessels. We show that vbg encodes activin receptor-like kinase 1 (Acvrl1; also known as Alk1), a TGFbeta type I receptor that is expressed predominantly in the endothelium of the vessels that become dilated in vbg mutants. Thus, vbg provides a model for the human autosomal dominant disorder, hereditary hemorrhagic telangiectasia type 2, in which disruption of ACVRL1 causes vessel malformations that may result in hemorrhage or stroke. Movies available on-line
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping