Overview

Jolting mice carry a spontaneous, autosomal recessive mutation characterized by cerebellar ataxia and generalized tremor and exhibit progressive weakness due to a functional denervation of skeletal muscle attributed to abnormalities in the cerebellum.

Genetic overview

Genetic Background	Generation

Scn8a^med-jo

Allele Type	Gene Symbol	Gene Name
Spontaneous	Scn8a	sodium channel, voltage-gated, type VIII, alpha

View Genetics

Research Applications

Neurobiology Research
Cell Biology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Detailed Description

Jolting mice carry a spontaneous, autosomal recessive mutation characterized by cerebellar ataxia and generalized tremor and exhibit progressive weakness due to a functional denervation of skeletal muscle. The mutation results in substitution of Thr for an evolutionarily conserved Ala residue in the cytoplasmic S4-S5 linker of domain III. Abnormalities in the cerebellum are responsible for the gait problems of the jolting mouse, and preliminary morphological and neurophysiological examination of the mouse with motor end-plate disease has shown that it also has cerebellar abnormalities. Axonal spheroids may be seen on cerebellar Purkinje cell axons, and the character of extra-cellular recordings obtained from the Purkinje cells is abnormal.

Development

The Scn8a^med-jo mutation arose spontaneously in DBA/2WyDi. John Harris maintained this allele in Newcastle, UK from the early 1970s then passed it off to M Meisler. In March, 2000 The Jackson Laboratory received from M. Meisler heterozygous males labeled N5 which have been bred to C57BL/6J and are now maintained via backcross intercross.

Control Suggestions

Untyped from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Scn8a^med-jo

Allele Symbol: Scn8a^med-jo

Allele Name	jolting
Allele Type	Spontaneous
Allele Synonym(s)	jo; med^jo
Gene Symbol and Name	Scn8a, sodium channel, voltage-gated, type VIII, alpha
Gene Synonym(s)
Strain of Origin	DBA/2WyDi
Chromosome	15
Molecular Note	A transition point mutation that altered coding nucleotide 3949 from G-to-A, which replaces the alanine at residue 1317 with threonine (p.A1317T). The mutation is located in a region of the ion channel that is predicted to encode the cytoplasmic linker between integral membrane segments S4 and S5 in domain III.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Scn8a^med-jo related

Neurobiology Research
- Ataxia (Movement) Defects
- Neuromuscular defects
- Channel and Transporter Defects
  - sodium
- Cerebellar Defects
  - Purkinje cell defect
Cell Biology Research
- Channel and Transporter Defects
  - sodium

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Scn8a^med-jo/Scn8a^med-jo
DBA/2WyDi-Scn8a

behavior/neurological phenotype

impaired limb coordination
- hind limb

tremors
- mice exhibit shivering or quaking in the anterior portion of the body

mammalian phenotype

muscle phenotype
- Normal - skeletal musculature is normal

nervous system phenotype
- Normal - peripheral nerves are normal

nervous system phenotype

abnormal nervous system electrophysiology
- between 1 and 9 months of age, cells within the Purkinje cell layer exhibit reduced spontaneous activity compared to in wild-type mice

Purkinje cell degeneration
- at 6 months of age, mice exhibit a progressive loss of Purkinje cells in the vermis and medial portion of the cerebellar hemisphere

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

Genotype: Scn8a^med-jo/Scn8a⁺
B6.D2-Scn8a/J

behavior/neurological phenotype

abnormal spike wave discharge
- mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice
- the average incidence of SWD is lower than in Scn8a^med heterozygotes

decreased susceptibility to pharmacologically induced seizures
- average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures
- following exposure to flurothyl, mice exhibit a 31% increase in latency to myoclonic jerk and a 55% increase in latency to generalized tonic-clonic seizure compared to in similarly treated wild-type mice
- following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice

nervous system phenotype

abnormal spike wave discharge
- mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice
- the average incidence of SWD is lower than in Scn8a^med heterozygotes

decreased susceptibility to pharmacologically induced seizures
- average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures
- following exposure to flurothyl, mice exhibit a 31% increase in latency to myoclonic jerk and a 55% increase in latency to generalized tonic-clonic seizure compared to in similarly treated wild-type mice
- following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice

References

Additional References

Kohrman DC; Smith MR; Goldin AL; Harris J; Meisler MH. 1996. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J Neurosci 16(19):5993-9PubMed: 8815882 MGI: J:35567

Additional - Scn8a^med-jo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Scn8a
- Genotyping resources and troubleshooting
Appearance
- black, unaffected
  Related Genotype: a/a Scn8a^med-jo/+ or a/a +/+
  
  black, ataxic
  Related Genotype: a/a Scn8a^med-jo/Scn8a^med-jo
Citation
When using the B6.D2-Scn8a^med-jo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003799 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 wildtype for Scn8a<med-jo>

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.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

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.

MICE, PRODUCTS or SERVICES 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 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.

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 JACKSON, 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 or SERVICES by JACKSON.

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Scn8amed-jo

Allele Symbol: Scn8amed-jo

Disease Terms

Research Areas By Phenotype

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

Genotype: Scn8amed-jo related

Mammalian Phenotype Terms by Genotype

Genotype: Scn8amed-jo/Scn8amed-joDBA/2WyDi-Scn8a

behavior/neurological phenotype

mammalian phenotype

nervous system phenotype

Genotype: Scn8amed-jo/Scn8a+B6.D2-Scn8a/J

behavior/neurological phenotype

nervous system phenotype

References

Additional References

Additional - Scn8amed-jo related

Genotyping Protocols

Appearance

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

Scn8a^med-jo

Allele Symbol: Scn8a^med-jo

Genotype: Scn8a^med-jo related

Genotype: Scn8a^med-jo/Scn8a^med-jo
DBA/2WyDi-Scn8a

Genotype: Scn8a^med-jo/Scn8a⁺
B6.D2-Scn8a/J

Additional - Scn8a^med-jo related