The human metaphyseal chondrodysplasia type Schmid is an autosomal dominant disorder associated with mutations in COL10A1 gene that result in ER retention of misfolded alpha(X) collagen in hypertrophic chondrocytes (HCs). In a MCDS transgenic mouse model (13del), we have previously implicated HC response and adaptation to ER stress as the underlying molecular pathogenesis of the disease.
No associated publication
Sex, Specimen part
View SamplesThe ectopic expression of a Col10a1-13del transgene in osteocytes induced ER stress, compromising their differentiation and expression of Sclerostin, resulting in generalized bone overgrowth resembling human crainodiaphyseal chondrodysplasia (CCD).
Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.
Specimen part
View SamplesZmpste24 is a metalloproteinase processing prelamin A into mature lamin A, a nuclear structure protein. Zmpste24-/- mice which accumulate prelamin A in cells recapitulate accelerated aging phenotypes observed in human premature aging disorder, Hutchinson Gilford progeria sydrome (HGPS). Zmpste24-/- mouse embryonic fibroblasts (MEFs) exhibited genomic instabiliy and accelerated aging at cellular level, which is premature senescence.
No associated publication
Specimen part
View SamplesPreviously, we have demonstrated that the recombinant adeno-associated virus carrying the kringle domain 1 of hepatocyte growth factor (rAAV-HGFK1) gene is a potential anti-angiogenic approach for the treatment of hepatocellular carcinoma (HCC) and exerts direct inhibition effects on tumor cells. Here, using genome-wide expression profiling technology, coupled with RT-PCR validation, we investigated the differentially expressed genes and proposed the mechanisms involved in HGFK1 anti-angiogenic and anti-tumor cell signaling networks.
No associated publication
Cell line
View SamplesThe Hippocampus Consortium data set provides estimates of mRNA expression in the adult hippocampus of 99 genetically diverse strains of mice including 67 BXD recombinant inbred strains, 13 CXB recombinant inbred strains, a diverse set of common inbred strains, and two reciprocal F1 hybrids.
Genetics of the hippocampal transcriptome in mouse: a systematic survey and online neurogenomics resource.
Sex, Age, Specimen part
View SamplesThis SuperSeries is composed of the SubSeries listed below.
Dynamic changes in 5-hydroxymethylation signatures underpin early and late events in drug exposed liver.
Sex, Specimen part, Treatment, Time
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Homer1a is a core brain molecular correlate of sleep loss.
No sample metadata fields
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STAT6 transcription factor is a facilitator of the nuclear receptor PPARγ-regulated gene expression in macrophages and dendritic cells.
Specimen part, Treatment, Subject, Time
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Conserved principles of mammalian transcriptional regulation revealed by RNA half-life.
No sample metadata fields
View SamplesCopy number variation (CNV) of DNA segments has recently been identified as a major source of genetic diversity, but a more comprehensive understanding of the extent and phenotypic effect of this type of variation is only beginning to emerge. In this study we generated genome-wide expression data from 6 mouse tissues to investigate how CNVs influence gene expression.
Segmental copy number variation shapes tissue transcriptomes.
No sample metadata fields
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