Atm/Aptx KO- Loss of Function
Ataxia-Telangiectasia
Genotype
Atm/Aptx KO
Mechanism
Loss of Function
Phenotype
Locomotor activity, Spasticity, Tremors, Motor coordination, Auditory response, Exploratory activity, Muscle strength
Biomarker
Alpha-fetoprotein, NfL, GFAP
Gene Expression Markers
p53, brca1, rad51, p21, bax , bcl-2, bdnf, caspase-3
Physiology Changes
Unsteady gait and Posture
Histology Grading Endpoint
Loss of Purkinje cells, Neuronal degeneration, Reactive gliosis, Reduced synaptic density