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Article

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling.

Scientific reports - 3 Oct 2017

Hughes James, Dawson Ruby, Tea Melinda, McAninch Dale, Piltz Sandra, Jackson Dominique, Stewart Laura, Ricos Michael G, Dibbens Leanne M, Harvey Natasha L, Thomas Paul

Abstract excerpt

DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex. To investigate the role of DEPDC5 in vivo we generated a null mouse model using targeted CRISPR mutagenesis. Depdc5 homozygotes display severe phenotypic defects between 12.5-15.5 dpc, including...

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Identifiers

PMID: 28974734
DOI: 10.1038/s41598-017-12574-2
PMCID: PMC5626732

Genes

DEPDC5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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