These Cstb knock-out mice exhibit tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia.
Dr. Richard M. Myers, Stanford University School of Medicine
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Cstb | cystatin B |
The progressive myoclonus epilepsies (PMEs) types are diseases characterized by tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia. Mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in one of these human diseases. Specifically, this mouse is a model of Unverricht-Lundborg disease (EPM1).Strain background has an effect on phenotype.
To disrupt the gene, a Cstb targeting vector containing a 12.3 kb PGK-neo expression cassette was inserted into the EagI site in exon 1. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were bred to crossed to 129/Sv mice.
Allele Name | targeted mutation 1, Richard M Myers |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Cystatin b- |
Gene Symbol and Name | Cstb, cystatin B |
Gene Synonym(s) | |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 10 |
Molecular Note | A neomycin selection cassette was inserted into exon 1. Northern blot and RT-PCR analysis on RNA derived from liver of homozygous mice demonstrated that no detectable transcript was produced from this allele. Western blot analysis on extracts of brain tissue derived from homozygous mice confirmed that no detectable encoded protein was made. |
Mutations Made By | Dr. Len Pennacchio, Lawrence Berkeley National Laboratory |
While maintaining a live colony, these mice are maintained by homozygote sibling matings.
When using the Cstb KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #003486 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Cstb<tm1Rm> |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.