Ontology highlight
ABSTRACT:
SUBMITTER: Hughes J
PROVIDER: S-EPMC5626732 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Hughes James J Dawson Ruby R Tea Melinda M McAninch Dale D Piltz Sandra S Jackson Dominique D Stewart Laura L Ricos Michael G MG Dibbens Leanne M LM Harvey Natasha L NL Thomas Paul P
Scientific reports 20171003 1
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 hypotrophy, anaemia, oedema, and cranial dysmorphology as well as blood and lymphati ...[more]