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Series GSE47005 Query DataSets for GSE47005
Status Public on May 02, 2014
Title Generation and standardized, systemic phenotypic analysis of Kctd1 mutant mice
Organism Mus musculus
Experiment type Expression profiling by array
Summary Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically mutant line HST014 was established and further analyzed. The causative mutation was detected in the gene Kctd1 which leads to the amino acid exchange Kctd1I27N thereby affecting the functional BTB domain of the protein. This line is the first mouse model harbouring a Kctd1 mutation. Kctd1I27N homozygous mutant mice die perinatally. Standardized, systemic phenotypic analysis of heterozygous mutants was carried out in the German Mouse Clinic. Systematic morphological investigation of the external physical appearance found no mutation-specific differences. Main phenotypic changes were kidney dysfunction, minor cardiovascular and neurological alterations as well as low plasma corticosterone levels. Genome-wide RNA expression analysis at the age of 4 months revealed few regulated genes in brain and heart, and over 100 significantly regulated genes in kidneys of heterozygous mutants.
Overall design Total RNA obtained from 4 mutant and 5 wild type control mice
Contributor(s) Beckers J, Horsch M
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Submission date May 16, 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)
GSM1142820 brain_wt rep1
GSM1142821 brain_het rep1
GSM1142822 brain_wt rep2
BioProject PRJNA203265

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
GSE47005_RAW.tar 3.1 Mb (http)(custom) TAR
GSE47005_non-normalized_data.txt.gz 3.6 Mb (ftp)(http) TXT
Raw data are available on Series record
Processed data included within Sample table

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