Mouse Models
SCA36
Publication
NOP56-(TG3C2)62
Identification
- Causal gene(s)
- NOP56
- Repeat size or mutation
- AAV9 with human NOP56 (TG3C2)62
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57BL/6J
- Type of model
- Induced (AAV9 infection)
Transgenic Construct
- Transgenic construct: sequence type
- human NOP56 gDNA with 62 (TG3C2) repeats
- Transgenic construct: details
- Expression vector containing NOP56 (TG3C2)62 human gDNA was subcloned in AAV expression vector (pAM/CBA-pl-WPRE-BGH) containing inverted repeats of serotype 2 and packaged into AAV9 capsids following intracerebroventricular AAV injections
Phenotype
- Progression
- progressive
- Hallmark features
- Clasping phenotype, locomotor defects, loss of cerebellar Purkinje cells, narrowing of molecular cell layer, presence of RNA foci in brain, RAN translation
Source & Publications
- Originating lab / institution
- Mayo Clinic
- Links to publications or public resources
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