IMPC phenotypes (gene matching)
STOCK Cers1tm1.1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:07163 |
| Citation information | RRID:IMSR_EM:07163 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Cers1tm1.1Kwi/Cnrm |
| Alternative name | CerS1KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cers1tm1.1Kwi |
| Gene/Transgene symbol | Cers1 |
Information from provider
| Provider | Klaus Willecke |
| Provider affiliation | Molecular genetics, LIMES Institute, University of Bonn |
| Genetic information | Exon 1 was replaced with a modified exon 1 lacking the translation initiation site. An FRT-flanked neo cassette was inserted upstream of exon 2. An EGFP gene with a splice acceptor and splice donor replaced part of exon 3 with additional translation reinitiation sites. Flp-mediated recombination removed the neo cassette. Western blot analysis confirmed the absence of protein expression in the forebrain, cerebellum, spinal cord and muscle and presence of Gdf1 protein expression in E10 embryos. No GFP expression is detected by Western blot analysis. |
| Phenotypic information | Degeneration of Purkinje cells, cerebellum atrophy, behavioral impairment. |
| Breeding history | Backcrossed to 93.8% C57BL/6. Usually, heterozygotes are bred. Because of behavioral impairment homozygous mice have breeding problems. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Progressive myoclonic epilepsy type 8 / Orphanet_424027
MGI phenotypes (allele matching)
- cerebellum vermis hypoplasia / MGI
- Purkinje cell degeneration / MGI
- decreased Purkinje cell number / MGI
- abnormal anxiety-related response / MGI
- hypoactivity / MGI
- abnormal lipid level / MGI
- abnormal lipid homeostasis / MGI
- abnormal motor learning / MGI
- increased neuron apoptosis / MGI
- astrocytosis / MGI
- abnormal response to novel object / MGI
- abnormal spatial working memory / MGI
- lipofuscinosis / MGI
- reduced cerebellar foliation / MGI
- cerebellum atrophy / MGI
MGI phenotypes (gene matching)
- tremors / MGI
- small cerebellum / MGI
- cerebellum vermis hypoplasia / MGI
- Purkinje cell degeneration / MGI
- decreased Purkinje cell number / MGI
- decreased body weight / MGI
- weight loss / MGI
- decreased body size / MGI
- abnormal anxiety-related response / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- impaired balance / MGI
- abnormal lipid level / MGI
- seizures / MGI
- premature death / MGI
- abnormal lipid homeostasis / MGI
- decreased brain weight / MGI
- gliosis / MGI
- abnormal motor learning / MGI
- increased neuron apoptosis / MGI
- neuron degeneration / MGI
- astrocytosis / MGI
- abnormal response to novel object / MGI
- abnormal spatial working memory / MGI
- abnormal Purkinje cell dendrite morphology / MGI
- lipofuscinosis / MGI
- reduced cerebellar foliation / MGI
- mortality/aging / MGI
- cerebellum atrophy / MGI
Literature references
- Ablation of neuronal ceramide synthase 1 in mice decreases ganglioside levels and expression of myelin-associated glycoprotein in oligodendrocytes.;Ginkel Christina, Hartmann Dieter, vom Dorp Katharina, Zlomuzica Armin, Farwanah Hany, Eckhardt Matthias, Sandhoff Roger, Degen Joachim, Rabionet Mariona, Dere Ekrem, Dörmann Peter, Sandhoff Konrad, Willecke Klaus, ;2012;The Journal of biological chemistry;287;41888-902; 23074226