ABSTRACT: Mouse retinal proteome for LFQ. The retinal samples of CCT2-LCA model of R516H/R516H (RH/RH) knock-in mice and its wild type littermates (WT/WT) were analyzed for LFQ.
Project description:Transcriptome of 8 and 18 weeks old mice where fibrosis developed upon the full-body knocking-out gene Glmp (glycosylated lysosomal membrane protein) (Glmpgt/gt; Glmp KO) Glmp KO mice were compared to their wild-type (WT) littermates
Project description:Mutations in COL6A3 lead to collagen VI-related myopathies due to COL6A3 loss. Therefore, studying the consequence of Col6a3 deregulated expression in mouse models is relevant, but the Col6a3 knockout mouse models currently available through a public repository does not entirely abolish COL6A3 protein expression. Here, we present the validation and phenotypic characterization of a novel CRISPR-based knockout mouse model targeting Col6a3 exon 3 (Col6a3 d3/d3). In this mouse model, Col6a3 mRNA is still expressed at a similar level to that of wild-type littermates, although the expected protein is undetectable. Histological analysis of Col6a3 d3/d3 quadriceps revealed an abnormally high frequency of muscle cells with a centralized nuclei, consistent with a muscular dystrophy phenotype. Interestingly, Col6a3 d3/d3 mice are smaller in size with their fat, muscle, and bone to body ratios kept proportional compared to wild type littermates. Thus, we developed a novel Col6a3 knockout mouse model that could be further used to study Col6a3 biology and collagen VI-associated diseases.
Project description:The integrated stress response (ISR) is a conserved pathway in eukaryotic cells that is activated in response to multiple sources of cellular stress. Although acute activation of this pathway restores cellular homeostasis, intense or prolonged ISR activation perturbs cell function and may contribute to neurodegeneration. We have characterized an eIF2B loss of function (LOF) mouse model, carrying the homozygous Eif2b5[R191H] mutation that is homologous to the Vanishing White Matter Disease (VWMD)-causing human R195H variant. Characterization of previously reported transcript markers in animals 3-4 weeks of age confirmed ISR activation in the brain, but not in heterozygous or wild-type littermates.The robust elevation of ISR markers was further confirmed in bulk brain RNA sequencing analysis of a separate cohort of homozygous mutants and wild-type littermates. Known ATF4 targets feature prominently among the most strongly up-regulated genes in the eIF2B mutant compared to WT littermates.
Project description:Ventricular tissue of 8 week female PA mice (https://pubmed.ncbi.nlm.nih.gov/23648696/) and their female wild-type littermates were processed for phosphoproteomics
Project description:Olfaction is often deregulated in Alzheimer´s disease (AD) patients, being also impaired in transgenic Tg2576 AD mouse model, which overexpress the Swedish mutated form of human amyloid precursor protein (APP). However, little is known about the molecular mechanisms that accompany the neurodegeneration of olfactory structures in Tg2576 mice. For that, we have applied proteome- and transcriptome-wide approaches to probe molecular disturbances in the olfactory bulb (OB) dissected from aged Tg2576 mice (18 months of age) respect to age matched wild-type (WT) littermates.
Project description:We investigated the effects of six weeks of voluntary wheel running in heterozygous B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj/J (FLExDUX4) mouse model of Facioscapulohumeral Muscular Dystrophy (FSHD) and their wild type (WT) littermates to characterize the structural/functional adaptations to voluntary wheel running and their molecular foundations using RNA sequencing
Project description:This project maps mitochondria-associated molecular changes in craniosynostosis by integrating public human transcriptomes and by generating proteomic data from a genetically defined mouse model. Differential expression signals were intersected with the MitoCarta 3.0 inventory to prioritize mitochondrial candidates, and cranial suture tissue from Fgfr2C361Y/+ knock-in mice and wild-type littermates was profiled to provide protein-level support.
Project description:Piriform cortex were isolated from 12-month old wild type and Q140 knock-in (KI) HD mice. Transcriptomic analysis (RNASeq) was performed on 2 genotypes: WT and Q140, 6 replicates per genotype.
Project description:In order to identify some lncRNA potentially involved in Rett syndrome we performed a mouse lncRNA expression microarray on whole brain samples coming from wild-type and MeCP2 Knock-out littermates. We found 2 lncRNAs directly bound by MeCP2 and upregulated in KO samples. We then focused on AK081227 because it overlaps with Gabrr2. The expression of this GABA receptor and the overlapping AK081227 are inversely correlated in thalamus, suggesting the long non-coding is regulating his own host. Whole brain total RNA was extracted from two Wild type mice (P60) and two MeCP2 KO littermates (P60)
Project description:In order to identify some lncRNA potentially involved in Rett syndrome we performed a mouse lncRNA expression microarray on whole brain samples coming from wild-type and MeCP2 Knock-out littermates. We found 2 lncRNAs directly bound by MeCP2 and upregulated in KO samples. We then focused on AK081227 because it overlaps with Gabrr2. The expression of this GABA receptor and the overlapping AK081227 are inversely correlated in thalamus, suggesting the long non-coding is regulating his own host.