Project description:We report on gene expression in stem cell-enriched, undifferentiated spermatogonia isolated from the adult mouse testis, in which one group are wild type and the other group contain a heterozygous Hras G12V mutation.
2019-04-18 | GSE129493 | GEO
Project description:Novel Lynch syndrome-causing mutation in the MLH1 gene accompanied by a p.R283C mutation in TP53: A case report
Project description:To determine the role of specific cis-regulatory elements within the Sox17 endoderm-preferential TSS2 promoter, we generated Sox17∆50 mutant animals, crossed them to a Sox17GFPCre (a Sox17 null allele), and surveyed how this mutation affected Sox17 expression. Livers were isolated from E12.5 Sox17∆50/GFPCRe compound heterozygous and Sox17+/+ embryos (n = 4 of each genotype), RNA isolated, and bulk RNA-Seq performed.
Project description:Recurrent deletions on 15q13.3 have been identified as a predisposition to mental retardation, epilepsy and psychiatric disease. We report compound heterozygous deletions on 15q13.3 in one patients with severe encephalopathy and seizures.
Project description:Similar to human patients, mice with the compound heterozygous mutation podocin R231Q/A268V, develop a late onset FSGS. Here, we did a proteomics anaylsis of kidney glomeruli before the onset of disease (mice at 3 weeks of age). Analysis of the data reveals that there are no developmental changes in the proteome of compund heterozygous mice.