Mouse Models
DRPLA
Publication
Atn1Q112/+ mouse
Identification
- Causal gene(s)
- ATN1
- Repeat size or mutation
- 112Q
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57BL/6Ntac
- Type of model
- knockin
Transgenic Construct
- Transgenic construct: sequence type
- human ATN1 DNA
- Transgenic construct: details
- endogenous mouse Atn1 allele was replaced with the human ATN1 sequence, from 5'UTR to 3'UTR with expanded pure 112 CAG repeats in exon 5 using CRISPR/Cas9
Phenotype
- Progression
- progressive
- Hallmark features
- Incoordination, gait disturbances, tremors, reduced brain size, aggregate accumulation
Source & Publications
- Originating lab / institution
- University of Washington
- Links to publications or public resources
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