Overview

Also Known As:motor end plate disease Jackson

These mice carry a spontaneous mutation at the Scn8a locus characterized by progressive skeletal muscle weakness, progressive atrophy of skeletal muscle, and terminal sprouting of motor nerves. The strain also carries Krt71^Ca (caracul) that produces curved vibrissae and wavy hair in young mice.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Krt71^Ca

Allele Type	Gene Symbol	Gene Name
Spontaneous	Krt71	keratin 71

Scn8a^med-J

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

View Genetics

Research Applications

Neurobiology Research
Cell Biology Research
Dermatology Research
Immunology, Inflammation and Autoimmunity Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Detailed Description

Mice homozygous for the motor end plate disease-Jackson spontaneous mutation (Scn8a^med-J) have a phenotype that resembles the original mutation (Scn8a^med). Homozygous motor end plate disease mutant mice show progressive skeletal muscle weakness beginning 8 to 10 days postnatally and usually die within 2 weeks of onset. Other disease characteristics include progressive atrophy of skeletal muscle, marked terminal sprouting of motor nerves along with slower conduction velocity and prolonged refraction, and eventually failure of muscle fibers to show end-plate potentials or action potentials in response to nerve stimulation. Heterozygotes may show mild manifestations of the disease during the first 2 weeks of life but symptoms disappear with age. Both homozygotes and heterozygotes exhibit immunological aberrations.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Krt71^Ca

Allele Symbol: Krt71^Ca

Allele Name	caracul
Allele Type	Spontaneous
Allele Synonym(s)	Ca
Gene Symbol and Name	Krt71, keratin 71
Gene Synonym(s)
Strain of Origin	Swiss stock
Chromosome	15
Molecular Note	Sequence analysis identified the transversion of an C-to-A at coding nucleotide 1292, resulting in an alanine to aspartic acid missense mutation at codon 431 (p.A431D).

Scn8a^med-J

Allele Symbol: Scn8a^med-J

Allele Name	motor end plate disease Jackson
Allele Type	Spontaneous
Allele Synonym(s)	med^J; seal
Gene Symbol and Name	Scn8a, sodium channel, voltage-gated, type VIII, alpha
Gene Synonym(s)
Strain of Origin	STOCK Krt71^Ca
Chromosome	15
General Note	This Scn8a^med remutation occurred at The Jackson Laboratory on the same chromosome as the very closely linked gene Krt71 in a stock carrying a mutation in that gene (J:6191). Homozygotes resemble Scn8a^med homozygotes. Heterozygotes may show mild manifestations of the disease during the first 2 weeks but they recover. Both homozygotes and heterozygotes exhibit immunological aberrations: reduced PFC response to sheep red blood cells in 14- to 16-day old mice, with reduced suppressor cell function and precocious maturation of the cytotoxic response to allogeneic cells at 21 to 23 days. The reduction in the PFC response disappears in older heterozygotes but remains in the few homozygotes that survive beyond 6 weeks of age (J:6824). The molecular defect in Scn8a is a 4 bp deletion in the splice donor site of exon 3 that causes exon skipping and protein truncation (J:34154). A very low level of correctly spliced transcripts has been detected, indicating that Scn8a^med-J is a severe hypomorph (J:53340). The modifier locus Scnm1 on chromosome 3 influences the phenotype of homozygotes for the Scn8a^med-J allele (J:53340). C57BL/6J mice carry the susceptible allele of Scnm1 which results in juvenile death. Other inbred strains carry a resistant allele and on these strains, homozygotes exhibit muscle weakness and dystonia.
Molecular Note	A 4-base pair deletion within the 5' donor site of exon 3 results in splicing from exon 1 to exon 4. The mutant transcript has an altered reading frame with premature stop codon close to the N terminus of the protein. A very low level of correctly spliced transcripts has been detected.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Scn8a^med-J related

Neurobiology Research
- Channel and Transporter Defects
  - sodium
- Ataxia (Movement) Defects
- Neuromuscular defects
Cell Biology Research
- Channel and Transporter Defects
  - sodium
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency Associated with Other Defects

Genotype: Krt71^Ca related

Dermatology Research
- Skin and Hair Texture Defects

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-J/Scn8a^med-J
involves: STOCK Krt71

behavior/neurological phenotype

abnormal gait
- mice exhibit an ataxic gait

ataxia
- mice exhibit an ataxic gait

dystonia
- chronic

tremors

mammalian phenotype

mortality/aging
- Normal - mice exhibit a normal lifespan

muscle phenotype

dystonia
- chronic

References

Additional References

De Repentigny Y; Cote PD; Pool M; Bernier G; Girard S; Vidal SM; Kothary R. 2001. Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. Hum Mol Genet 10(17):1819-27PubMed: 11532991 MGI: J:71615
Kikkawa Y; Oyama A; Ishii R; Miura I; Amano T; Ishii Y; Yoshikawa Y; Masuya H; Wakana S; Shiroishi T; Taya C; Yonekawa H. 2003. A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation. Genetics 165(2):721-33PubMed: 14573483 MGI: J:86407
Papiernik M; Rieger F; Ezine S; Pincon-Raymond M. 1982. Impairment of T lymphocyte functions in mice with motor end-plate disease. Clin Exp Immunol 48(2):429-36PubMed: 7049455 MGI: J:6824
Sprunger LK; Escayg A; Tallaksen-Greene S; Albin RL; Meisler MH. 1999. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum Mol Genet 8(3):471-9PubMed: 9949206 MGI: J:53340

Additional - a related

Additional - Krt71^Ca related

Additional - Scn8a^med-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Ca and Scn8a are linked on chromosome 15 and are maintained in coupling in this strain.
- Additional Breeding and Husbandry Support
Appearance
- black, unaffected
  Related Genotype: a/a Scn8a^med/+ or a/a +/+
Citation
When using the motor end plate disease Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000304 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 Wild-type for Krt71<Ca>, Heterozygous or Wild-type for Scn8a<med-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.

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.

Also Known As:motor end plate disease Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Control Suggestions

Additional Information

a

Allele Symbol: a

Krt71Ca

Allele Symbol: Krt71Ca

Scn8amed-J

Allele Symbol: Scn8amed-J

Disease Terms

Research Areas By Phenotype

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

Genotype: Scn8amed-J related

Genotype: Krt71Ca related

Mammalian Phenotype Terms by Genotype

Genotype: Scn8amed-J/Scn8amed-Jinvolves: STOCK Krt71

behavior/neurological phenotype

mammalian phenotype

muscle phenotype

References

Additional References

Additional - a related

Additional - Krt71Ca related

Additional - Scn8amed-J related

Genotyping Protocols

Breeding Considerations

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

Krt71^Ca

Allele Symbol: Krt71^Ca

Scn8a^med-J

Allele Symbol: Scn8a^med-J

Genotype: Scn8a^med-J related

Genotype: Krt71^Ca related

Genotype: Scn8a^med-J/Scn8a^med-J
involves: STOCK Krt71

Additional - Krt71^Ca related

Additional - Scn8a^med-J related