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Series GSE47781 Query DataSets for GSE47781
Status Public on May 02, 2014
Title ENU mutagenesis derived Ednray129F-/- mice as a new model for human velocardiofacial syndrome/DiGeorg syndrome (VCFS/DGS)
Organism Mus musculus
Experiment type Expression profiling by array
Summary Human velocardiofacial syndrom/DiGeorg (VCFS/DGS) syndrom is a complex developmental disease with various expression of a large number of phenotypes. Craniofacial, cardiac, behavioural and endocrinological phenotypes are cardinal symptoms liked to the 22Q11.2 deletion occuring in 1/4.000 births. Several genes located within the 1.5 to 3 Mb deletion resemble a number of phenotypes demonstrated in mouse models for these genes including the endothelin receptor A (Ednra) gene. This is the first report on gene dosage effects observed in a dominant mouse model carrying an EdnraY129F point-mutation. EdnraY129F/+ mice are viable despite a strong cardiac phenotype alike to Fallot's tetralogy concomitant with cardiofacial, otolaryngeal phenotypes and deafness.
Overall design Total RNA obtained from 4 male heterzygote and 4 male wildtype mice
Contributor(s) Beckers J, Horsch M
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Submission date Jun 10, 2013
Last update date Jun 14, 2018
Contact name Martin Irmler
Organization name Helmholtz Zentrum M√ľnchen GmbH
Department Institute of Experimental Genetics
Lab Gene Regulation & Epigenetics
Street address Ingolstaedter Landstrasse 1
City Neuherberg
State/province Bayern
ZIP/Postal code 85764
Country Germany
Platforms (1)
GPL6885 Illumina MouseRef-8 v2.0 expression beadchip
Samples (24)
GSM1159631 heart_het_rep1
GSM1159632 heart_het_rep2
GSM1159633 heart_het_rep3
BioProject PRJNA207801

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE47781_RAW.tar 3.1 Mb (http)(custom) TAR
GSE47781_non-normalized_data.txt.gz 4.0 Mb (ftp)(http) TXT
Raw data are available on Series record
Processed data included within Sample table

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