L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns

Erik Fransen, Rudi D'Hooge, Guy Van Camp, Marleen Verhoye, Jan Sijbers, Edwin Reyniers, Philippe Soriano, Hiroyuki Kamiguchi, Rob Willemsen, Sebastiaan K E Koekkoek, Chris I. De Zeeuw, Peter P. De Deyn, Annemie Van Der Linden, Vance Lemmon, R. Frank Kooy, Patrick J. Willems

Research output: Contribution to journalArticle

195 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)999-1009
Number of pages11
JournalHuman Molecular Genetics
Volume7
Issue number6
DOIs
StatePublished - Jan 1 1998
Externally publishedYes

Fingerprint

Knockout Mice
Cerebral Aqueduct
Nervous System Malformations
Fourth Ventricle
Neural Cell Adhesion Molecules
Pyramidal Tracts
Mutation
Exploratory Behavior
Lateral Ventricles
Brain
Hydrocephalus
Intellectual Disability
Transgenic Mice
Genes
Dilatation
Rodentia
Magnetic Resonance Imaging

ASJC Scopus subject areas

  • Genetics

Cite this

Fransen, E., D'Hooge, R., Van Camp, G., Verhoye, M., Sijbers, J., Reyniers, E., ... Willems, P. J. (1998). L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Human Molecular Genetics, 7(6), 999-1009. https://doi.org/10.1093/hmg/7.6.999

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. / Fransen, Erik; D'Hooge, Rudi; Van Camp, Guy; Verhoye, Marleen; Sijbers, Jan; Reyniers, Edwin; Soriano, Philippe; Kamiguchi, Hiroyuki; Willemsen, Rob; Koekkoek, Sebastiaan K E; De Zeeuw, Chris I.; De Deyn, Peter P.; Van Der Linden, Annemie; Lemmon, Vance; Kooy, R. Frank; Willems, Patrick J.

In: Human Molecular Genetics, Vol. 7, No. 6, 01.01.1998, p. 999-1009.

Research output: Contribution to journalArticle

Fransen, E, D'Hooge, R, Van Camp, G, Verhoye, M, Sijbers, J, Reyniers, E, Soriano, P, Kamiguchi, H, Willemsen, R, Koekkoek, SKE, De Zeeuw, CI, De Deyn, PP, Van Der Linden, A, Lemmon, V, Kooy, RF & Willems, PJ 1998, 'L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns', Human Molecular Genetics, vol. 7, no. 6, pp. 999-1009. https://doi.org/10.1093/hmg/7.6.999
Fransen E, D'Hooge R, Van Camp G, Verhoye M, Sijbers J, Reyniers E et al. L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Human Molecular Genetics. 1998 Jan 1;7(6):999-1009. https://doi.org/10.1093/hmg/7.6.999
Fransen, Erik ; D'Hooge, Rudi ; Van Camp, Guy ; Verhoye, Marleen ; Sijbers, Jan ; Reyniers, Edwin ; Soriano, Philippe ; Kamiguchi, Hiroyuki ; Willemsen, Rob ; Koekkoek, Sebastiaan K E ; De Zeeuw, Chris I. ; De Deyn, Peter P. ; Van Der Linden, Annemie ; Lemmon, Vance ; Kooy, R. Frank ; Willems, Patrick J. / L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. In: Human Molecular Genetics. 1998 ; Vol. 7, No. 6. pp. 999-1009.
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