| Experiment Id | GSE97281 | Name | The de novo Autism Spectrum Disorder RELN R2290C Mutation Reduces Reelin Secretion and Increases Protein Disulfide Isomerase Expression |
| Experiment Type | RNA-Seq | Study Type | WT vs. Mutant |
| Source | GEO | Curation Date | 2025-06-27 |
| description | To determine if changes in Protein Disulfide Isomerase (PDIA1) expression in mice with a null Reelin allele were caused by accumulation of intracellular Reelin or were an effect of reduced Reelin protein, we examined expression of PDIA1 and other stress markers in heterozygous RELN +/- null allele mice. The levels of PDIA1 as well as PERK, BIP, phospho-eIF2alpha and total eIF2alpha were unchanged between wild-type and RELN +/- null allele mice. This suggested that there are phenotypic differences in the cerebella between mice that carry a RELN allele that fails to produce a protein (null allele) and those that make a protein that fails to be secreted (Orl allele). Each of the three major ER stress pathways ultimately leads to changes in gene transcription. Thus, we compared wild-type and heterozygous RELN Orl +/- mice cerebellum by RNAseq. Analysis was performed on 3 heterozygous (HET) and 3 wild-type (WT) cerebella, obtained from 6-week old male mice. Comparison of gene expression in the cerebellum of Reelin heterozygous null mice and wildtype mice using RNA-seq |
