|
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 |
Citation missing |
Has this study been published? Please login to update or notify GEO. |
Submission date |
Jun 10, 2013 |
Last update date |
Jun 14, 2018 |
Contact name |
Martin Irmler |
Organization name |
Helmholtz Zentrum München 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)
|
|
Relations |
BioProject |
PRJNA207801 |