Article
Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice.
Nature genetics - 1 Sept 2001
Parkinson N J, Olsson C L, Hallows J L, McKee-Johnson J, Keogh B P, Noben-Trauth K, Kujawa S G, Tempel B L
Abstract excerpt
The autosomal recessive mouse mutation quivering (qv), which arose spontaneously in 1953, produces progressive ataxia with hind limb paralysis, deafness and tremor. Six additional spontaneous alleles, qvJ, qv2J, qv3J, qv4J, qvlnd and qvlnd2J, have been identified. Ear twitch responses (Preyer's reflex) to sound are absent in homozygous qv/qv mice, although cochlear morphology seems normal and cochlear potentials...
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