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Series GSE56402 Query DataSets for GSE56402
Status Public on Feb 10, 2017
Title A recessive point mutation is responsible for pleiotropic effects in a scube3 mutant mouse
Organism Mus musculus
Experiment type Expression profiling by array
Summary We established and characterized a new recessive mutant mouse line kta41 with a point mutation in Scube3 at position 882. The mutant line was detected by screening for morphological abnormalities in the Munich ENU-mutagenesis program. The mutation was mapped by microsatellite markers to mouse chromosome 17, between markers D17MIT29 and D17MIT101. Candidate gene approaches failed due to the low recombination frequency and the high number of genes within the mapped interval. Whole genome sequencing approaches revealed a C to A transversion on position 882 in Scube3 that leads to a missense mutation in the protein (Asn294Lys). We did a broad phenotypic analysis of the mutant mouse line in the German Mouse Clinic (GMC), and followed up the found alterations by detailed phenotypic characterization. Scube3-kta41-/- mice show a series of phenotypic alterations, mainly in the skeleton, behavior and neurological abnormalities as well as changes in physiology, metabolism and immune status.
 
Overall design Total RNA obtained from 4 homozygote male mice and 4 male wild type controls
 
Contributor(s) Beckers J, Horsch M
Citation(s) 27815347
Submission date Apr 01, 2014
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 (8)
GSM1360898 wild type_rep1
GSM1360899 wild type_rep2
GSM1360900 wild type_rep3
Relations
BioProject PRJNA243187

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
GSE56402_RAW.tar 3.1 Mb (http)(custom) TAR
GSE56402_non-normalized_data.txt.gz 1.3 Mb (ftp)(http) TXT
Raw data are available on Series record
Processed data included within Sample table

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