These mice carry a spontaneous mutation at the Sptbn4 locus characterized by dystrophic axons in the low lumbar and sacral spinal cord levels.Read More +
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.
|Allele Name||lumbosacral neuroaxonal dystrophy|
|Allele Synonym(s)||dyn; lnd|
|Gene Symbol and Name||Sptbn4, spectrin beta, non-erythrocytic 4|
|Strain of Origin||C57BL/10SnJ|
|Molecular Note||The mutation is a single base pair deletion of residue C1583 (transcript XM_006540436) causing a frameshift at arginine 528.|