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
  • Humans
  • Smad Proteins
  • Activin Receptors/genetics*
  • Activin Receptors/metabolism*
  • Animals
  • Cerebrovascular Circulation
  • Chromosome Mapping
  • Animals, Genetically Modified
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism*
  • Molecular Sequence Data
  • Telangiectasia, Hereditary Hemorrhagic/genetics
  • Telangiectasia, Hereditary Hemorrhagic/physiopathology
  • Head/blood supply*
  • Head/embryology
  • Signal Transduction
  • Trans-Activators/metabolism
  • Mutation
  • Sequence Homology, Amino Acid
  • Amino Acid Sequence
  • Embryo, Nonmammalian
  • DNA-Binding Proteins/metabolism
  • Zebrafish/embryology
  • Zebrafish/genetics*
  • Smad5 Protein
  • Phosphoproteins/metabolism
  • Smad8 Protein
  • Blood Vessels/abnormalities
  • Blood Vessels/embryology*
  • Gene Expression Regulation, Developmental
(all 30)
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
Marker Marker Type Name
acvr1baGENEactivin A receptor type 1Ba
acvrl1GENEactivin A receptor like type 1
fli1GENEFli-1 proto-oncogene, ETS transcription factor
gata2aGENEGATA binding protein 2a
tie1GENEtyrosine kinase with immunoglobulin-like and EGF-like domains 1
z14967SSLPZ14967
z4421SSLPZ4421
1 - 7 of 7
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Figures
Figure Gallery (5 images)
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Expression
Phenotype
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
ft09e
    Point Mutation
    w5
      Deficiency
      y1TgTransgenic Insertion
        y6
          Point Mutation
          y7TgTransgenic Insertion
            1 - 5 of 5
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            Human Disease / Model
            No data available
            Sequence Targeting Reagents
            Target Reagent Reagent Type
            acvrl1MO1-acvrl1MRPHLNO
            acvrl1MO2-acvrl1MRPHLNO
            1 - 2 of 2
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            Fish
            Antibodies
            No data available
            Orthology
            Gene Orthology
            acvrl1
            1 - 1 of 1
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            Engineered Foreign Genes
            Marker Marker Type Name
            EGFPEFGEGFP
            1 - 1 of 1
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            Mapping
            Entity Type Entity Symbol Location
            GENEacvr1baChr: 23 Details
            GENEacvrl1Chr: 23 Details
            SSLPz4421Chr: 23 Details
            SSLPz14967Chr: 23 Details
            1 - 4 of 4
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