Mouse Models
FXTAS
Publication
FMRP-P608L mutation mice
Identification
- Causal gene(s)
- FMR1
- Repeat size or mutation
- Fmr1 missense mutation c.1823C>T (Pro608Leu)
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57BL/6J
- Type of model
- CRISPR/Cas9-induced mutation
Transgenic Construct
- Transgenic construct: sequence type
- Fmr1 missense mutation c.1823C>T (Pro608Leu) in exon 17 was generated with CRISPR/Cas9-mediated genome engineering
Phenotype
- Progression
- progressive
- Hallmark features
- Impaired motor behavior, decreased striatal dopamine levels
Source & Publications
- Originating lab / institution
- The Second Affiliated Hospital of Guangzhou Medical University
- Links to publications or public resources
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