Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (Sptbn4qv-lnd) have dystrophic axons in the low lumbar and sacral spinal cord levels. Although the dystrophic axons are present in both grey and white matter, they predominate in dorso-lateral white matter. Homozygous mutant mice can be identified by 3 weeks of age by a slight tremor of the head and slightly smaller size than normal littermates. They develop progressive wobbly gait, mild head tremor, nervous behavior, and a tendency to drag their hind limbs. Homozygotes develop progressive spastic paresis, demonstrated by a marked resistance to passive flexion at about 5 months of age.

These mice carry a spontaneous mutation at the Sptbn4 locus characterized by dystrophic axons in the low lumbar and sacral spinal cord levels.

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