Mouse Models
SCA11
Publication
conditional Ttbk2 KO (Ttbk2pcp2)
Identification
- Causal gene(s)
- TTBK2
- Repeat size or mutation
- Conditional Ttbk2 knockout specifically in the Purkinje cells
- Animal model
- Mouse
Model Details
- Type of model
- knockout
Transgenic Construct
- Transgenic construct: details
- a conditional allele of Ttbk2 from the European Mutant Mouse Cell Repository (Ttbk2tm1c(EUCOMM)Hmgu) was crossed with a mouse line expressing tamoxifen-inducible Cre recombinase driven by a Pcp2 promoter
- Promoter: gene
- Pcp2
- Promoter: species
- Mouse
Phenotype
- Hallmark features
- lower number of primary cilia, loss of VGLUT2 synapses in cerebellum, locomotor deficiencies
Source & Publications
- Originating lab / institution
- Duke University
- Links to publications or public resources
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