Human Molecular Genetics, Vol 7, 999-1009, Copyright © 1998 by Oxford University Press
E Fransen, R D'Hooge, G Van Camp, M Verhoye, J Sijbers, E Reyniers, P Soriano, H Kamiguchi, R Willemsen, SK Koekkoek, CI De Zeeuw, PP De Deyn, A Van der Linden, V Lemmon, RF Kooy and PJ Willems
L1 is a neural cell adhesion molecule mainly involved in axon guidance and
neuronal migration during brain development. Mutations in the human L1 gene
give rise to a complex clinical picture, with mental retardation,
neurologic abnormalities and a variable degree of hydrocephalus. Recently,
a transgenic mouse model with a targeted null mutation in the L1 gene was
generated. These knockout (KO) mice show hypoplasia of the corticospinal
tract. Here we have performed further studies of these KO mice including
magnetic resonance imaging of the brain, neuropathological analysis and
behavioral testing. The ventricular system was shown to be abnormal with
dilatation of the lateral ventricles and the 4th ventricle, and an altered
shape of the Sylvius aqueduct. Additionally, the cerebellar vermis of the
KO mice is hypoplastic. Their exploratory behavior is characterized by
stereotype peripheral circling reminiscent of that of rodents with induced
cerebellar lesions.
ARTICLES
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
Department of Medical Genetics, University of Antwerp, B-2610 Antwerp, Belgium. fransen@uia.ua.ac.be
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|
|
|
|
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|
|
|
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|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
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|
|
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|
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|
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|
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 |
|
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|
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I. Fujimoto, J. L. Bruses, and U. Rutishauser Regulation of Cell Adhesion by Polysialic Acid. EFFECTS ON CADHERIN, IMMUNOGLOBULIN CELL ADHESION MOLECULE, AND INTEGRIN FUNCTION AND INDEPENDENCE FROM NEURAL CELL ADHESION MOLECULE BINDING OR SIGNALING ACTIVITY J. Biol. Chem., August 17, 2001; 276(34): 31745 - 31751. [Abstract] [Full Text] [PDF]
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