STOCK Cers1tm1.1Kwi/Cnrm

Status

Available to order

EMMA IDEM:07163
International strain nameSTOCK Cers1tm1.1Kwi/Cnrm
Alternative nameCerS1KO
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolCers1tm1.1Kwi,
Gene/Transgene symbolCers1

Information from provider

ProviderKlaus Willecke
Provider affiliationMolecular genetics, LIMES Institute, University of Bonn
Genetic informationExon 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 informationDegeneration of Purkinje cells, cerebellum atrophy, behavioral impairment.
Breeding historyBackcrossed to 93.8% C57BL/6. Usually, heterozygotes are bred. Because of behavioral impairment homozygous mice have breeding problems.
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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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