Mouse Models
SCA31
Publication
Tk2-/- KO mice (no ataxia phenotype)
Identification
- Causal gene(s)
- BEAN1/TK2
- Repeat size or mutation
- Homozygous Tk2 knock-out mice
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57BL/6J
- Type of model
- knockout
Transgenic Construct
- Transgenic construct: sequence type
- Replacement of exon 4 and part of exon 5 of the Tk2 gene by a neomycin resistance cassette
- Transgenic construct: details
- A targeting vector containing exon 3 till 6 of the Tk2 gene, the region containing exon 4 and 5 (bp 7066-9753) was replaced by a neomycin resistance cassette
Phenotype
- Progression
- progressive
- Hallmark features
- Growth retardation, high rate of early mortality, hypothermia, progressive depletion of mtDNA levels, cardiomyopathy, lipodystrophy
Source & Publications
- Originating lab / institution
- Karolinska Institute
- Links to publications or public resources
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