Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6 Donor Strain C57BL/10SnJ Generation N16

Description
Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (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 Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Spnb4

005098	A.B6 Tyr+-Spnb4qv-7J/J
005753	B6;CByJ-Spnb4qv-9J/J
002996	B6ByJ;D2-Spnb4qv-4J/J
000638	C3FeB6 A/Aw-J-Spnb4qv-J/J
002433	C3H/HeJ-Spnb4qv-lnd2J/J
008522	C57BL/6J-Spnb4qv-11J/J
001028	C57BL/6J-Spnb4qv-3J/J
005449	C57BL/6J-Spnb4qv-8J/J
008521	C;B6-Spnb4qv-10J/J

View Strains carrying other alleles of Spnb4     (9 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Spnb4^qv-lnd/Spnb4^qv-lnd

        B6.B10-Spnb4^qv-lnd

• growth/size phenotype
• decreased body size (MGI Ref ID J:11718)
  • slightly smaller than wild-type and have a more slender torso
• nervous system phenotype
• axonal dystrophy (MGI Ref ID J:11718)
  • 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
• behavior/neurological phenotype
• abnormal gait (MGI Ref ID J:11718)
  • develop a wobbly gait with age and then to drag the hind legs
• paresis (MGI Ref ID J:11718)
  • develop a progressive spastic paresis at about 5 months of age, demonstrated by marked resistance to passive flexion
• tremors (MGI Ref ID J:11718)
  • head tremors are seen by the 3rd week of life
• reproductive system phenotype
• male infertility (MGI Ref ID J:11718)

View Research Applications

Research Applications

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

Spnb4^qv-lnd related

Neurobiology Research
Neurodegeneration
Neuromuscular Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Spnb4qv-lnd
Allele Name		lumbosacral neuroaxonal dystrophy
Allele Type		Spontaneous
Common Name(s)		dyn; lnd;
Strain of Origin		C57BL/10SnJ
Gene Symbol and Name		Spnb4, spectrin beta 4
Chromosome		7
Gene Common Name(s)		1700022P15Rik; 5830426A08Rik; KIAA1642; QV; RIKEN cDNA 1700022P15 gene; RIKEN cDNA 5830426A08 gene; ROSA62; SPTBN3; SpbIV; dyn; lnd; lumbosacral neuroaxonal dystrophy; neuroaxonal dystrophy; neuroscience mutagenesis facility, 261; neuroscience mutagenesis facility, 379; nmf261; nmf379; quivering; qv;
General Note		Spnb4qv-lnd (formerly dyn) arose in the C57BL/10SnJ strain at The Jackson Laboratory (J:11718).
Molecular Note		The mutation is a single base pair deletion of residue C1601 causing a frameshift at amino acid A480. [MGI Ref ID J:71549]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Spnb4^qv-lnd related

Bronson RT; Sweet HO; Spencer CA; Davisson MT. 1992. Genetic and age related models of neurodegeneration in mice: dystrophic axons. J Neurogenet 8(2):71-83. [PubMed: 1634998]  [MGI Ref ID J:11718]

Parkinson NJ; Olsson CL; Hallows JL; McKee-Johnson J; Keogh BP; Noben-Trauth K; Kujawa SG; Tempel BL. 2001. Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet 29(1):61-5. [PubMed: 11528393]  [MGI Ref ID J:71549]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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.

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Ordering and Purchasing Information

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Terms of Use

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General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

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