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 journalArticlepeer-review

216 Scopus citations


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
Issue number6
StatePublished - Jun 1998
Externally publishedYes


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