Abstract
The staggerer mutant mouse carries a spontaneous mutation in the ligand-binding domain of the rora gene. RORα is expressed in many tissues and its loss leads to diverse abnormalities. In the cerebellum of staggerer mice, there is severe early degeneration of Purkinje cells and associated death of their afferent neurons (granule and olivary neurons). Thus, staggerer mice have atrophic cerebella, associated with severe ataxia and spatial learning deficit. In contrast, although heterozygote staggerer mice develop apparently normally, there is premature Purkinje cell atrophy and death in adulthood. Given that recent links have been demonstrated between RORα, spinocerebellar ataxia and autism spectrum disorders, the staggerer mouse is a particularly interesting model for cerebellar pathologies.