Cited by 463Tuberous Sclerosis Complex ResearchPI3K/AKT/mTOR signaling in cancerEpilepsy research and treatment

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A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival

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Meikle, Lynsey, Talos, Delia M., Onda, Hiroaki, Pollizzi, Kristen, Rotenberg, Alexander, Sahin, Mustafa, Jensen, Frances E., Kwiatkowski, David J.·2007·The Journal of Neuroscience

DOI 10.1523/jneurosci.5540-06.2007PMC PMC6672762

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Abstract

Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 in which cerebral cortical tubers and seizures are major clinical issues. We have engineered mice in which most cortical neurons lose Tsc1 expression during embryonic development. These Tsc1 mutant mice display several neurological abnormalities beginning at postnatal day 5 with subsequent failure to thrive and median survival of 35 d. The mice also display clinical and electrographic seizures both spontaneously and with physical stimulation, and some seizures end in a fatal tonic phase. Many cortical and hippocampal neurons are enlarged and/or dysplastic in the Tsc1 mutant mice, strongly express phospho-S6, and are ectopic in multiple sites in the cortex and hippocampus. There is a striking delay in myelination in the mutant mice, which appears to be caused by an inductive neuronal defect. This new TSC brain model replicates several features of human TSC brain lesions and implicates an important function of Tsc1/Tsc2 in neuronal development.

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Authors: Meikle, L., Talos, D. M., Onda, H., Pollizzi, K., Rotenberg, A., Sahin, M., Jensen, F. E., & Kwiatkowski, D. J.
Affiliations: Brigham and Women's Hospital (US)
Boston Children's Hospital (US)
Corresponding author: Jensen, Frances E.
ORCID: Talos, Delia M.
Onda, Hiroaki
Rotenberg, Alexander
Jensen, Frances E.
Kwiatkowski, David J.
Venue: The Journal of Neuroscience
Publisher: Society for Neuroscience
Published: 2007-05-23
Volume: 27
Issue: 21
Pages: 5546-5558
ISSN: 0270-6474 (ISSN-L)
1529-2401
DOI: 10.1523/jneurosci.5540-06.2007
PMC: PMC6672762
OpenAlex: W2024191529
Cited by: 462
References: 68
Citations by year: 2026: 9 · 2025: 17 · 2024: 14 · 2023: 14 · 2022: 20 · 2021: 27 · 2020: 23 · 2019: 22 · 2018: 29 · 2017: 23 · 2016: 25 · 2015: 37 · 2014: 31 · 2013: 35 · 2012: 50
FWCI: 12.30
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-sa
creativecommons.org/licenses/by-nc-sa/4.0/ (vor, 184 d)
Locations: Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Tuberous Sclerosis Alliance
National Institutes of Health (DP1OD003347, NS31718, NS24279)
National Institute of Neurological Disorders and Stroke (NS31718, R01NS031718, R56NS031718, P01NS024279, NS 24279)
Topics: Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
Keywords: tuberous sclerosis complex, TSC1, TSC2, mouse model, cortical tubers, neuronal loss, ectopic neurons, seizures, hippocampus, phospho-S6, neuronal development, survival
MeSH terms: Tuberous Sclerosis Complex 1 Protein, Animals, Demyelinating Diseases, Disease Models, Animal, Female, Male, Mice, Inbred CBA, Mice, Inbred C57BL, Mice, Transgenic, Neurons, Seizures, Tuberous Sclerosis, Survival Rate, Tumor Suppressor Proteins, Mice

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A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival

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