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 +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Sptbn4 | spectrin beta, non-erythrocytic 4 |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | dyn; lnd |
Gene Symbol and Name | Sptbn4, spectrin beta, non-erythrocytic 4 |
Gene Synonym(s) | |
Strain of Origin | C57BL/10SnJ |
Chromosome | 7 |
Molecular Note | The mutation is a single base pair deletion of residue C1583 (transcript XM_006540436) causing a frameshift at arginine 528. |
When using the lumbosacral neuroaxonal dystrophy mouse strain in a publication, please cite the originating article(s) and include JAX stock #001769 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Spnb4<qv-lnd> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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