Abstract
Mice with theweaver mutation exhibit an uneven weave to their gait, ataxia, mild locomotor hyperactivity and, occasionally, tonic-clonic seizures. A single amino acid mutation in a G-protein coupled, inwardly rectifying K+ channel, GIRK2, gives rise to the symptoms seen in theweaver mice. Two areas of the brain are primarily affected. Cerebellar granule cell neurons die soon after birth and dopaminergic neurons are severely depleted in the substantia nigra. In this article we review recent studies of wild-type and mutant GIRK channels found in native cells or introduced into expression systems. We also review two models that explain some of the details leading to the neuronal cell death observed inweaver mice.
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Harkins, A.B., Fox, A.P. Cell death inweaver mouse cerebellum. Cerebellum 1, 201–206 (2002). https://doi.org/10.1080/14734220260418420
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DOI: https://doi.org/10.1080/14734220260418420