129-Cstb^tm1Rm/J

Stock number: 003486
Product name: Cstb KO
Research areas: Neurobiology Research, Sensorineural Research

Description

  These Cstb knock-out mice exhibit tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia.

Detailed description

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.

Development

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

Symbol: Cstb^tm1Rm
Name: targeted mutation 1, Richard M Myers
MGI accession ID: MGI:1861915
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Cstb
Marker name: cystatin B
Chromosome: 10
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.