Project description:RASopathies are a diverse group of developmental disorders associated with germline or somatic mutations in genes of the Mitogen Activated Protein Kinase (MAPK) signaling pathway. We characterized in this dataset a mosaic mouse model, in which a constitutively active form of the MAPK effector Braf (V600E) is expressed in the embryonic progenitors of myelin-forming Schwann cells of peripheral nerves under the control of the MpZ(P0)-Cre recombinase. These mice develop an early, fully penetrant degenerative peripheral neuropathy. The RNAseq experiment compares total RNA extracted from whole sciatic nerves between spinal cord and knee between mutant and control pairs of littermates from six distinct outbred litters at postnatal day 21.
Project description:Analysis of gene expression in LKB1(Stk11)-depleted sciatic nerves (LKB1-SCKO) vs control nerves from age-matched mice. Gene expression profiles are predominantly derived from Schwann cell glia and provide important information about the response of peripheral nerve Schwann cells to inactivation of the metabolic regulator protein LKB1(aka Stk11). Total RNA obtained from sciatic nerve segments from 6 LKB1-SCKO mutant mice compared to RNA from nerve segments from 6 control mice (floxed LKB1 mutant mice that do not express Cre recombinase).
Project description:The goals of this study is to compare blood-nerve-barrier transcriptome profiling (RNAseq) of wildtype; P2RY14-/-; Nf1fl/f Dhh Cre and P2RY14-/- Nf1fl/f Dhh Cre mouse sciatic nerves (n=2) per genotype.
Project description:RNA sequencing was performed comparing sciatic nerves of Schwann cell specific DICER mutants with SC-specific DGCR8 and DROSHA mutants.
Project description:We have generated mouse models of real CMT1B mutations in the gene encoding for myelin protein zero (P0). One of these mutants, P0S63del is retained in the ER where it elicits an unfolded protein response (UPR). Genetic ablation of the UPR factor CHOP restores the motor capacity in S63del mice. We used microarray to decipher the molecular mechanism undelying the P0S63del neuropathy and the rescue in S63del/Chop null nerves. Sciatic nerves were dissected from WT, S63del, Chop null and S63del/Chop null mice at three different time points: (i) postnatal day 5 (P5) when myelination has just started and only the primary effects of the presence of the mutant protein should be detected; (ii) P28, around the peak of myelination, when all the downstream targets of CHOP should be activated; and (iii) 4 months, to check for secondary effects of the disease and because this was the time-point when the motor and morphological rescue due to the ablation of CHOP were clearly detectable.
Project description:In this study, we analyzed the transcriptome profiles of mouse sciatic nerves after developmental (P1 and P5) or inducible (4 weeks post Tamoxifen) deletion of Dnm2 conditionally in Schwann cells (using a P0Cre-driven or a P0CreERT2-driven recombination of floxed alleles, respectively) as compared to controls (floxed Dnm2 homozygous, Cre-negative).
