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Series GSE77681 Query DataSets for GSE77681
Status Public on Mar 24, 2016
Title C9orf72 is required for proper macrophage and microglial function in mice
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Decreased expression of C9orf72 is seen in expansion carriers, suggesting loss of function may play a role in disease. We find that two independent mouse lines lacking the C9orf72 ortholog (3110043O21Rik) in all tissues developed normally and aged without motor neuron disease. Instead, C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells. C9orf72 expression was highest in myeloid cells, and loss of C9orf72 led to lysosomal accumulation and altered immune responses in macrophages and microglia, with age-related neuroinflammation similar to C9orf72 ALS but not sporadic ALS patient tissue. Thus, C9orf72 is required for normal function of myeloid cells, and altered microglial function may contribute to neurodegeneration in C9orf72 expansion carriers.
Overall design To compare the RNA Seq profiles from the lumbar region of spinal cords from mice lacking one copy or both copies of the C9orf72 ortholog (3110043O21Rik) compared to wild type control with two copies at 3 months (n=3) and 17 months (n=4).
Contributor(s) O'Rourke JG, Baloh RH
Citation(s) 26989253
Submission date Feb 08, 2016
Last update date May 15, 2019
Contact name Jacqueline Gire O'Rourke
Phone 310-248-8550
Organization name Cedars Sinai Medical Center
Street address 8700 Beverly Blvd
City Los Angeles
State/province CA
ZIP/Postal code 90048
Country USA
Platforms (2)
GPL13112 Illumina HiSeq 2000 (Mus musculus)
GPL19057 Illumina NextSeq 500 (Mus musculus)
Samples (21)
GSM2055998 CTR1
GSM2055999 CTR2
GSM2056000 CTR3
BioProject PRJNA311200
SRA SRP069772

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SOFT formatted family file(s) SOFTHelp
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE77681_17_mo_RNA_Seq_C9null.xlsx 2.5 Mb (ftp)(http) XLSX
GSE77681_3_mo_RNA_Seq_C9null.xlsx 1.9 Mb (ftp)(http) XLSX
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Raw data are available in SRA
Processed data are available on Series record

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