B6.B10Sn-Sptbn4^qv-lnd/J

Stock number: 001769
Product name: lumbosacral neuroaxonal dystrophy
Research areas: Neurobiology Research

Description

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

Detailed description

Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (Sptbn4^qv-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

Symbol: Sptbn4^qv-lnd
Name: lumbosacral neuroaxonal dystrophy
MGI accession ID: MGI:1856939
Generation method: Spontaneous
Marker symbol: Sptbn4
Marker name: spectrin beta, non-erythrocytic 4
Chromosome: 7
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.