Overview

Also Known As:quivering Jackson

These mice carry a spontaneous mutation at the Sptbn4 locus characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males.

Genetic overview

Genetic Background	Generation

A^w-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

A

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Sptbn4^qv-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Sptbn4	spectrin beta, non-erythrocytic 4

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Research Applications

Neurobiology Research
Sensorineural Research
Reproductive Biology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the quivering-Jackson spontaneous mutation (Sptbn4^qv-J) are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males. Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal. The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that the deafness, unlike that of any other deaf mutants in the mouse, is of central origin. Viability of homozygous mutant mice at weaning is normal, but the life span is short, the majority dying before 5 months of age. Males are sterile, but females may be fertile and nurse their young.

Development

The spontaneous mutation quivering Jackson (Sptbn4^qv-J) arose in The Jackson Laboratory vibrating (Pitpna^vb) strain when it was at generation F40 in 1974. The vibrating mutation arose in strain DBA/2J and was outcrossed once to C57BL/6J before inbreeding. The first affected Sptbn4^qv-J female to breed was mated to a C3FeB6-A/A^w-J hybrid, and the stock was maintained by mating a quivering female to a C3FeB6-A/A^w male in the cross generation and sibling pairs in the intercross generation. It was cryopreserved in 1986 by mating heterozygous males to heterozygous females at N30.

Genetics

A^w-J

Allele Symbol: A^w-J

Allele Name	white bellied agouti Jackson
Allele Type	Spontaneous
Allele Synonym(s)	A^WJ
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	2

A

Allele Symbol: A

Allele Name	wild-type agouti
Allele Type	Spontaneous
Allele Synonym(s)	dark-bellied agouti
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	various
Chromosome	2
General Note	The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.
Molecular Note	This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.

Sptbn4^qv-J

Allele Symbol: Sptbn4^qv-J

Allele Name	quivering Jackson
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Sptbn4, spectrin beta, non-erythrocytic 4
Gene Synonym(s)
Strain of Origin	D2XB-Pitpna^vb
Chromosome	7
Molecular Note	This spontaneous mutation was proven allelic with the original quivering mutation by a noncomplementation test. Sequencing of the Spnb4 gene only detected three silent third-base polymorphisms in the coding region and these polymorphisms can be identified in unaffected inbred strains.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Sptbn4^qv-J related

Neurobiology Research
- Ataxia (Movement) Defects
- Tremor Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects
Reproductive Biology Research
- Fertility Defects
  - males only

Mammalian Phenotype Terms by Genotype

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

Genotype: Sptbn4^qv-J/Sptbn4^qv-J
C3FeB6 A/A-Sptbn4/J

behavior/neurological phenotype

tremors

mammalian phenotype

muscle phenotype
- Normal - concentric needle electromyographic recordings from hind limb and paraspinous muscles in two homozygotes do not show evidence of myotonia or other forms of enhanced electrical activity appropriate to a channel defect

References

Additional References

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):61-5PubMed: 11528393 MGI: J:71549

Additional - A related

Additional - A^w-J related

Additional - Sptbn4^qv-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Separated PCR:A A A Alternate2
- Genotyping resources and troubleshooting
Citation
When using the quivering Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000638 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
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Homozygous for Spnb4<qv-J>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (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. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

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Animal Care and Use for SERVICES

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No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

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The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON 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 JACKSON, and by its licensees and distributors.

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Also Known As:quivering Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Aw-J

Allele Symbol: Aw-J

A

Allele Symbol: A

Sptbn4qv-J

Allele Symbol: Sptbn4qv-J

Disease Terms

Research Areas By Phenotype

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

Genotype: Sptbn4qv-J related

Mammalian Phenotype Terms by Genotype

Genotype: Sptbn4qv-J/Sptbn4qv-JC3FeB6 A/A-Sptbn4/J

behavior/neurological phenotype

mammalian phenotype

References

Additional References

Additional - A related

Additional - Aw-J related

Additional - Sptbn4qv-J related

Genotyping Protocols

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

A^w-J

Allele Symbol: A^w-J

Sptbn4^qv-J

Allele Symbol: Sptbn4^qv-J

Genotype: Sptbn4^qv-J related

Genotype: Sptbn4^qv-J/Sptbn4^qv-J
C3FeB6 A/A-Sptbn4/J

Additional - A^w-J related

Additional - Sptbn4^qv-J related