Vibrator ( vb): a spinocerebellar system degeneration with autosomal recessive inheritance in mice

Abstract

Vibrator (gene symbol vb), an autosomal recessive mutation, occurred spontaneously in the DBA/2J strain of mice, was rescued by a single cross to C57BL/6J and subsequent brother × sister mating, and has been mapped near shaker-2 ( sh-2) and vestigial tail ( vt) on chromosome 11. The name emphasizes the unusually rapid (18–20 Hz) postural action tremor expressed in juvenile homozygotes. Selected neurons in spinal cord, and later in brainstem and cerebellum, show progressive degenerative changes featuring dilated cisternae of endoplasmic reticulum in cell bodies, dendrites and axons, with eventual severe intracellular vacuolation and some cell death.