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Series GSE127723 Query DataSets for GSE127723
Status Public on Jan 11, 2020
Title Hippocampus RNA-seq in CD x Gtf2i*
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Williams syndrome is a neurodevelopmental disorder caused by a 1.5-1.8Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of Williams syndrome include cardiovascular problems, craniofacial dysmorphology, deficits in visual spatial cognition, and a characteristic hypersocial personality. There are still no genes in the region that have been consistently linked to the cognitive and behavioral phenotypes, although human studies and mouse models have led to the current hypothesis that the general transcription factor 2 I family of genes, GTF2I and GTF2IRD1, are responsible. Here we test the hypothesis that these two transcription factors are sufficient to reproduce the phenotypes that are caused by deletion of the Williams syndrome critical region (WSCR). We compare a new mouse model with loss of function mutations in both Gtf2i and Gtf2ird1 to an established mouse model lacking the complete WSCR. We show that the complete deletion model has deficits across several behavioral domains including social communication, motor functioning, and conditioned fear that are not explained by loss of function mutations in Gtf2i and Gtf2ird1. Furthermore, transcriptome profiling of the hippocampus shows changes in synaptic genes in the complete deletion model that are not seen in the double mutants. Thus, we have thoroughly defined a set of molecular and behavioral consequences of complete WSCR deletion, and shown that other genes or combinations of genes are necessary to produce these phenotypic effects.
Overall design 18 samples of total hippocamapal RNA from three genotypes, CD, Gtf2i*, and WT. There are 6 biological replicates per genotype. WT are used as the controls
Contributor(s) Kopp ND, Dougherty JD
Citation(s) 31418010
NIH grant(s)
Grant ID Grant title Affiliation Name
Submission date Mar 01, 2019
Last update date Jan 12, 2020
Contact name Joseph D Dougherty
Organization name Washington University
Department Genetics and Psychiatry
Street address 4566 Scott Ave, box 8232
City St Louis
State/province Missouri
ZIP/Postal code 63110
Country USA
Platforms (1)
GPL21493 Illumina HiSeq 3000 (Mus musculus)
Samples (18)
GSM3637719 hippocampus_wildtype_7.3
GSM3637720 hippocampus_CD_10.3
GSM3637721 hippocampus_CD_18.2
BioProject PRJNA525108
SRA SRP187215

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Supplementary file Size Download File type/resource
GSE127723_Hippocampus_RNA_Gtf2i_x_CD_dge.csv.gz 443.7 Kb (ftp)(http) CSV
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Processed data are available on Series record

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