Mouse Models
DRPLA
Publication
At65QmNES mice
Identification
- Causal gene(s)
- ATN1
- Repeat size or mutation
- 65Q with alteration of nuclear export signal
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C3H/B6
- Type of model
- transgenic
Transgenic Construct
- Transgenic construct: sequence type
- Full-length cDNA
- Transgenic construct: details
- Full-length cDNA of atrophin-1 encoding 65Q and alterations in the nuclear export signal (amino acids 1033-1041) were cloned into an expression plasmid leading to expression of transgenes in CNS neurons
- Promoter: gene
- PrP
- Promoter: species
- Mouse
Phenotype
- Progression
- progressive
- Hallmark features
- Increased nuclear accumulation and aggregation of mutant atropin-1 in neurons, shorter lifespan, reduced survival, locomotor abnormalities, astrogliosis
Source & Publications
- Originating lab / institution
- Johns Hopkins University School of Medicine
- Links to publications or public resources
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