Mouse Models
FXTAS
Publication
5’UTR FMR1 (CGG)99
Identification
- Causal gene(s)
- FMR1
- Repeat size or mutation
- Full human FMR1 5'UTR with 99 expanded CGG expressing both CGG RNA and FMRpolyG protein
- Animal model
- Mouse
Model Details
- Type of model
- transgenic
Transgenic Construct
- Transgenic construct: sequence type
- Full human FMR1 5'UTR with 99 expanded CGG expressing both CGG RNA and FMRpolyG protein
- Transgenic construct: details
- Full human FMR1 5'UTR with 99 expanded CGG expressing both CGG RNA and FMRpolyG protein with CAG promoter inserted in Rosa26 locus
- Promoter: gene
- CAG
Phenotype
- Progression
- progressive
- Hallmark features
- Locomotor deficiency, obesity, loss of Purkinje cells, neuroinflammation, premature death
Source & Publications
- Originating lab / institution
- Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)
- Links to publications or public resources
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