Epilepsy and brain abnormalities in mice lacking the Otx1 gene

D. Acampora, S. Mazan, V. Avantaggiato, P. Barone, F. Tuorto, Y. Lallemand, P. Brulet, A. Simeone

Research output: Contribution to journalArticle

215 Citations (Scopus)

Abstract

The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional information and differentiation during morphogenesis have been isolated. Both in vivo inactivation in mice and impairment in human diseases revealed, that they are required in regional specification and/or correct cell-type induction. We have previously cloned and characterized the murine Otx1 gene, which is related to orthodenticle (otd), a homeobox-containing gene required for Drosophila head development. Expression data during murine embryogenesis and postnatal brain development support the idea that Otx1 could be required for correct brain and sense organs development. To decipher its role in vivo we produced null mice by replacing Otx1 with the lacZ gene. Otx1(-/-) mice showed spontaneous epileptic behaviour and multiple abnormalities affecting mainly the telencephalic temporal and perirhinal areas, the hippocampus, the mesencephalon and the cerebellum, as well as the acoustic and visual sense organs. Our findings indicate that the Otx1 gene product is required for proper brain functions.

Original languageEnglish
Pages (from-to)218-222
Number of pages5
JournalNature Genetics
Volume14
Issue number2
DOIs
Publication statusPublished - 1996

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Epilepsy
Sense Organs
Brain
Morphogenesis
Genes
Multiple Abnormalities
Telencephalon
Lac Operon
Homeobox Genes
Mesencephalon
Acoustics
Cerebellum
Drosophila
Embryonic Development
Hippocampus
Head

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Acampora, D., Mazan, S., Avantaggiato, V., Barone, P., Tuorto, F., Lallemand, Y., ... Simeone, A. (1996). Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nature Genetics, 14(2), 218-222. https://doi.org/10.1038/ng1096-218

Epilepsy and brain abnormalities in mice lacking the Otx1 gene. / Acampora, D.; Mazan, S.; Avantaggiato, V.; Barone, P.; Tuorto, F.; Lallemand, Y.; Brulet, P.; Simeone, A.

In: Nature Genetics, Vol. 14, No. 2, 1996, p. 218-222.

Research output: Contribution to journalArticle

Acampora, D, Mazan, S, Avantaggiato, V, Barone, P, Tuorto, F, Lallemand, Y, Brulet, P & Simeone, A 1996, 'Epilepsy and brain abnormalities in mice lacking the Otx1 gene', Nature Genetics, vol. 14, no. 2, pp. 218-222. https://doi.org/10.1038/ng1096-218
Acampora D, Mazan S, Avantaggiato V, Barone P, Tuorto F, Lallemand Y et al. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nature Genetics. 1996;14(2):218-222. https://doi.org/10.1038/ng1096-218
Acampora, D. ; Mazan, S. ; Avantaggiato, V. ; Barone, P. ; Tuorto, F. ; Lallemand, Y. ; Brulet, P. ; Simeone, A. / Epilepsy and brain abnormalities in mice lacking the Otx1 gene. In: Nature Genetics. 1996 ; Vol. 14, No. 2. pp. 218-222.
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