Mouse Models SCA11 Publication

conditional Ttbk2 KO (Ttbk2c.mut)

Identification

Causal gene(s)
TTBK2
Repeat size or mutation
Ubiquitous conditional Ttbk2 knockout
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 ubiquitously expressed promoter, Ubc-Cre-ERT2
Promoter: gene
Ubc
Promoter: species
Mouse

Phenotype

Hallmark features
Locomotor deficiencies, thinning of molecular layer of cerebellum, loss of VGLUT2 synapses in cerebellum, neuronal shrinking, altered bergmann glia morphology, loss of neuronal primary cilia

Source & Publications

Originating lab / institution
Duke University

Twenty Twenty-Five

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