Mouse Genome Informatics
phenotype observed in females
phenotype observed in males
N normal phenotype
• impaired performance on the rotarod at 6 weeks of age
• develop an ataxic gait at 6 weeks of age
• gait progressively deteriorates with age
• wobbling and short stepped gait at 15 weeks of age
• at 15 weeks of age

nervous system
• cell bodies appear smaller at 6 weeks of age
• cytoplasmic inclusions are detected in the cerebellum at 7 weeks of age and become more evident with age
• inclusions colocalize with lysosomal markers
• at 15 weeks of age remaining cells have irregularly shaped nuclei and contain may structurally abnormal mitochondria
• steep decline in cell numbers after 6 weeks of age
• decrease in dendritic arborization and numerous axonal swellings are seen
• in brain slices containing Purkinje cells injection of a small depolarizing current fails to induce an oscillating behavior in the Na+ spike bursts which is seen in some (4 of 18 slices) wild-type mice

Mouse Models of Human Disease
Spinocerebellar Ataxia 6; SCA6 183086 J:190729