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Comparative transcriptome analysis of a series of high stepper mutant mice to better understand mutational effect and Rorb function

ABSTRACT: To better understand the effects of high stepper (hstp) mutations on expression from the Rorb locus, we performed RNAseq on samples of whole brain from WT, Rorbh1/h1, Rorbh2/h2, and Rorbh4/h4 mice. Abnormal transcripts in Rorbh1/h1 brain, mapping upstream of exon 1, likely result from the >326kb duplication in this region, which is thought to cause the hstp phenotype. A similar yet distinct pattern of aberrant transcripts ~150kb farther upstream in Rorbh2/h2 brain may indicate the presence of a different as-yet-undetermined structural mutation in this line. Comparison of all datasets reveals that the dramatic high stepper gait phenotype can occur despite very few changes to the transcriptome of the brain as a whole.

ORGANISM(S): Mus musculus

PROVIDER: GSE145852 | GEO | 2020/02/25

REPOSITORIES: GEO

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Project description:Aubert2002 - Coupling between Brain electrical activity, Metabolism and Hemodynamics Felix Winter encoded this model in SBML as part of his work at ASD GmbH This model is described in the article: A model of the coupling between brain electrical activity, metabolism, and hemodynamics: application to the interpretation of functional neuroimaging. Aubert A, Costalat R. Neuroimage 2002 Nov; 17(3): 1162-1181 Abstract: In order to improve the interpretation of functional neuroimaging data, we implemented a mathematical model of the coupling between membrane ionic currents, energy metabolism (i.e., ATP regeneration via phosphocreatine buffer effect, glycolysis, and mitochondrial respiration), blood-brain barrier exchanges, and hemodynamics. Various hypotheses were tested for the variation of the cerebral metabolic rate of oxygen (CMRO(2)): (H1) the CMRO(2) remains at its baseline level; (H2) the CMRO(2) is enhanced as soon as the cerebral blood flow (CBF) increases; (H3) the CMRO(2) increase depends on intracellular oxygen and pyruvate concentrations, and intracellular ATP/ADP ratio; (H4) in addition to hypothesis H3, the CMRO(2) progressively increases, due to the action of a second messenger. A good agreement with experimental data from magnetic resonance imaging and spectroscopy (MRI and MRS) was obtained when we simulated sustained and repetitive activation protocols using hypotheses (H3) or (H4), rather than hypotheses (H1) or (H2). Furthermore, by studying the effect of the variation of some physiologically important parameters on the time course of the modeled blood-oxygenation-level-dependent (BOLD) signal, we were able to formulate hypotheses about the physiological or biochemical significance of functional magnetic resonance data, especially the poststimulus undershoot and the baseline drift. This model is hosted on BioModels Database and identified by: BIOMD0000000570. To cite BioModels Database, please use: BioModels Database: An enhanced, curated and annotated resource for published quantitative kinetic models. To the extent possible under law, all copyright and related or neighbouring rights to this encoded model have been dedicated to the public domain worldwide. Please refer to CC0 Public Domain Dedication for more information.

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Comparative transcriptome analysis of a series of high stepper mutant mice to better understand mutational effect and Rorb function

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