ZFIN ID: ZDB-PUB-020820-13
Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels
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.
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
  • Blood Vessels/abnormalities
  • Blood Vessels/embryology*
  • Cerebrovascular Circulation
  • Chromosome Mapping
  • DNA-Binding Proteins/metabolism
  • Embryo, Nonmammalian
  • Gene Expression Regulation, Developmental
  • Head/blood supply*
  • Head/embryology
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Phosphoproteins/metabolism
  • Sequence Homology, Amino Acid
  • Signal Transduction
  • Smad Proteins
  • Smad5 Protein
  • Smad8 Protein
  • Telangiectasia, Hereditary Hemorrhagic/genetics
  • Telangiectasia, Hereditary Hemorrhagic/physiopathology
  • Trans-Activators/metabolism
  • Zebrafish/embryology
  • Zebrafish/genetics*
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism*
PubMed: 12050147
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