Description

Strain Information

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N1p+F4p

Appearance
black, affected
Related Genotype: a/a Spnb4^qv-3J/Spnb4^qv-3J

black, unaffected
Related Genotype: a/a Spnb4^qv-3J/+, a/a +/+

Description
Mice homozygous for the quivering 3 Jackson spontaneous mutation (Spnb4^qv-3J) are very similar to mice homozygous for the quivering-Jackson mutation (Spnb4^qv-J). Homozygous quivering mutant mice 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 have been used successfully for in vitro fertilization. Females may be fertile and nurse their young.

Development
The quivering 3 Jackson mutation (qv-3J) arose spontaneously at The Jackson Laboratory in the strain C57BL/6J-jsd/J in approximately1984 when that strain was at F142+6. In 1985 embryos were generated for cryopreservation by crossing homozygous females at generation F3 and F4 with C57BL/6J males.

Control Information

	Control
	Heterozygote 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
001769	B6.B10Sn-Spnb4qv-lnd/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
005449	C57BL/6J-Spnb4qv-8J/J
008521	C;B6-Spnb4qv-10J/J

View Strains carrying other alleles of Spnb4     (9 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Spnb4^qv-3J/Spnb4^qv-3J

        C57BL/6J-Spnb4^qv-3J/J

• behavior/neurological phenotype
• tremors (MGI Ref ID J:116914)
  • quivering behavior is observed
• hearing/vestibular/ear phenotype
• abnormal brainstem auditory evoked potential (MGI Ref ID J:14995)
  • normal P1 thresholds and latencies but P2-P5 waves are absent or dysmorphic, providing evidence of a lesion in the cochlear nucleus
• absent linear vestibular evoked potential (MGI Ref ID J:116914)
  • VESPs are absent at the maximum stimulus intensity used

View Research Applications

Research Applications

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

Spnb4^qv-3J related

Neurobiology Research
Ataxia (Movement) Defects
Tremor Defects
Vestibular and Hearing Defects

Reproductive Biology Research
Fertility Defects (males only)

Sensorineural Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Spnb4qv-3J
Allele Name		quivering 3 Jackson
Allele Type		Spontaneous
Strain of Origin		C57BL/6J-Utp14bjsd
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-3J, quivering-3J, recessive. This remutation arose spontaneously in the C57BL/6J strain at The Jackson Laboratory in 1985. Frozen embryos and DNA have been preserved at The Jackson Laboratory. Recordings of brainstem auditory evoked potentials in Spnb4qv-2J and Spnb4qv-3J homozygotes have normal P1 thresholds and latencies while P2-P5 waves are absent or dysmorphic, providing additional evidence that the Spnb4qv mutation causes a lesion in the cochlear nucleus (J:14995).
Molecular Note		The mutation is a T insertion at residue 6786 that produces a frameshift at amino acid G2209. [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

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]

Spnb4^qv-3J related

Hossain WA; Antic SD; Yang Y; Rasband MN; Morest DK. 2005. Where is the spike generator of the cochlear nerve? Voltage-gated sodium channels in the mouse cochlea. J Neurosci 25(29):6857-68. [PubMed: 16033895]  [MGI Ref ID J:99846]

Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133]  [MGI Ref ID J:116914]

Ogawa Y; Schafer DP; Horresh I; Bar V; Hales K; Yang Y; Susuki K; Peles E; Stankewich MC; Rasband MN. 2006. Spectrins and ankyrinB constitute a specialized paranodal cytoskeleton. J Neurosci 26(19):5230-9. [PubMed: 16687515]  [MGI Ref ID J:108683]

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]

Rauch SD. 1987. Hereditary deafness of central origin in two new alleles of the quivering mutation Mouse News Lett 78:44.  [MGI Ref ID J:14995]

Yang Y; Lacas-Gervais S; Morest DK; Solimena M; Rasband MN. 2004. BetaIV spectrins are essential for membrane stability and the molecular organization of nodes of Ranvier. J Neurosci 24(33):7230-40. [PubMed: 15317849]  [MGI Ref ID J:97264]

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

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryopreserved Embryos This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page. Cryorecovery - Standard. 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 males and two females (two pairs) will be provided, 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 delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. 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
	Heterozygote 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.

---

Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

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.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

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.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.