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.

Control Suggestions

Untyped from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Sptbn4^qv-lnd

Allele Symbol: Sptbn4^qv-lnd

Allele Name	lumbosacral neuroaxonal dystrophy
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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Sptbn4^qv-lnd related

Neurobiology Research
- Neurodegeneration
- Neuromuscular defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Sptbn4^qv-lnd/Sptbn4^qv-lnd
B6.B10-Sptbn4

behavior/neurological phenotype

abnormal gait
- develop a wobbly gait with age and then to drag the hind legs

paresis
- develop a progressive spastic paresis at about 5 months of age, demonstrated by marked resistance to passive flexion

tremors
- head tremors are seen by the 3rd week of life

growth/size/body region phenotype

decreased body size
- slightly smaller than wild-type and have a more slender torso

nervous system phenotype

axonal dystrophy
- dystrophic axons are seen at the low lumbar and sacral spinal cord levels and are present in both white and grey matter but are particularly concentrated in dorso-lateral white matter

reproductive system phenotype

male infertility

References

Additional - Sptbn4^qv-lnd related

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Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Spnb4<qv-lnd>

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Also Known As:lumbosacral neuroaxonal dystrophy

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