Mouse Models
AOA1
Publication
AtmR35X/R35X; Aptx-/+ mice
Identification
- Causal gene(s)
- APTX
- Repeat size or mutation
- Aptx heterozygous knockout with homozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57Bl/6 and 129 x C57Bl/6J
- Type of model
- heterozygous-ko
Phenotype
- Hallmark features
- Ataxic phenotype, atrophy of cerebellar molecular layer, Purkinje cell signaling dysfunction,
Source & Publications
- Originating lab / institution
- Harbor UCLA medical Center
- Links to publications or public resources
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