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Article

Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality.

Scientific reports - 4 Aug 2014

Shiono Masatoshi, Kobayashi Toshiyuki, Takahashi Riichi, Ueda Masatsugu, Ishioka Chikashi, Hino Okio

Abstract excerpt

The Tsc2 product, tuberin, negatively regulates the mTOR pathway. We have exploited the Eker (Tsc2-mutant) rat system to analyse various Tsc2 mutations. Here, we focus on the N525S-Tsc2 variant (NSM), which is known to cause distinct symptoms in patients even though normal suppression of mTOR is observed. Unexpectedly, we were repeatedly unable to generate viable rats carrying the NSM transgene. Genotypic...

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Share to Embryo, Mammalian
Share to Embryonic Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Lethal

Share to Rats, Transgenic

Share to TOR Serine-Threonine Kinases

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

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Identifiers

PMID: 25088526
DOI: 10.1038/srep05927
PMCID: PMC5379989

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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