Mouse Models
FXTAS
Publication
Fragile X premutation knock-in mice
Identification
- Causal gene(s)
- FMR1
- Repeat size or mutation
- Knock-in of mouse Fmr1 gene with expanded CGG repeat
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57/BL6
- Type of model
- knockin
Transgenic Construct
- Transgenic construct: sequence type
- Mouse Fmr1 gene fragment (promoter, exon1, intron1) with an expanded CGG repeat (118 CGG)
- Transgenic construct: details
- Targeting construct containing the promoter, exon1 and intron 1 of the mouse Fmr1 gene. A repeat tract expansion (118 CGG) in exon 1 was generated using a serial ligation strategy
- Promoter: gene
- Fmr1
- Promoter: species
- Mouse
Phenotype
- Hallmark features
- Neuronal intranuclear inclusions, PC pathology, regional Fmrp deficits (more in thalamus and inferior olivary complex), repeat instability
Source & Publications
- Originating lab / institution
- National Institutes of Health
- Links to publications or public resources
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