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
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|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|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.