{"database":"biostudies-arrayexpress","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown","Transcriptomics","Genomics","Proteomics"],"submitter":["Karin Lin"],"instrument_platform":["Illumina NovaSeq 6000"],"study_type":["RNA-seq of coding RNA"],"organism":["Mus musculus"],"species":["Mus musculus"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/E-MTAB-15246"],"description":["The integrated stress response (ISR) is a conserved signaling pathway triggered by a variety of insults that include ER stress, mitochondrial stress, amino acid deprivation, and viral infection. The essential stress sensor and key effector of this pathway is eIF2B, and loss-of-function mutations in any of its 5 subunits can lead to Vanishing White Matter disease (VWM) in humans. We generated and characterized mouse models harboring different pathogenic mutations to model VWM and to understand the impact of chronic ISR activation on organismal and cellular physiology. Here, we performed bulk RNA-seq on the cerebellum from 5-month-old homozygous Eif2b5[R191H] (n=4) and WT mice (n=5)."],"repository":["biostudies-arrayexpress"],"sample_protocol":["Nucleic Acid Extraction - RNA extraction was performed following the MaxMAX total RNA isolation kit (Invitrogen #AM1830)","Library Construction - RNA-seq libraries were prepared using the NEBNext Ultra II Directional RNA Library Prep Kit for Illumina (New England Biolabs, Ipswich, MA, USA)","Sample Collection - Mice were euthanized with CO2 and tissue was flash frozen in liquid nitrogen after dissection. Tissues were treated with RNA-later ICE (Invitrogen #AM7030) for 24 hr at -20C","Sequencing - Paired-end libraries with read length 150 bp were sequenced on an Illumina NovaSeq 6000 sequencer to a mean depth of 36 million reads per library"],"figure_sub":["Organization","MINSEQE Score","Assays and Data","MAGE-TAB Files"],"pubmed_authors":["Carmela Sidrauski","Karin Lin"],"additional_accession":[]},"is_claimable":false,"name":"RNA-seq of cerebellum from Eif2b5[R191H] mice","description":"The integrated stress response (ISR) is a conserved signaling pathway triggered by a variety of insults that include ER stress, mitochondrial stress, amino acid deprivation, and viral infection. The essential stress sensor and key effector of this pathway is eIF2B, and loss-of-function mutations in any of its 5 subunits can lead to Vanishing White Matter disease (VWM) in humans. We generated and characterized mouse models harboring different pathogenic mutations to model VWM and to understand the impact of chronic ISR activation on organismal and cellular physiology. Here, we performed bulk RNA-seq on the cerebellum from 5-month-old homozygous Eif2b5[R191H] (n=4) and WT mice (n=5).","dates":{"release":"2025-06-30T00:00:00Z","modification":"2025-06-20T11:35:12.875Z","creation":"2025-06-20T11:35:12.875Z"},"accession":"E-MTAB-15246","cross_references":{"ENA":["ERP173818"],"EFO":["EFO_0002944","EFO_0004170","EFO_0005518","EFO_0003738","EFO_0004184"]}}