Spontaneous and induced mouse mutations with cerebellar dysfunctions: behavior and neurochemistry.

Grid2(Lc) (Lurcher), Grid2(ho) (hot-foot), Rora(sg) (staggerer), nr (nervous), Agtpbp1(pcd) (Purkinje cell degeneration), Reln(rl) (reeler), and Girk2(Wv) (Weaver) are spontaneous mutations with cerebellar atrophy, ataxia, and deficits in motor coordination tasks requiring balance and equilibrium. In addition to these signs, the Dst(dt) (dystonia musculorum) spinocerebellar mutant displays dystonic postures and crawling. More recently, transgenic models with human spinocerebellar ataxia mutations and alterations in calcium homeostasis have been shown to exhibit cerebellar anomalies and motor coordination deficits. We describe neurochemical characteristics of these mutants with respect to regional brain metabolism as well as amino acid and biogenic amine concentrations, uptake sites, and receptors.