|
| 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 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 (8)
|
|
| Relations |
| BioProject |
PRJNA243187 |
Less...
More...