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Former Names B6C3Fe a/a-Krt2-6gCa Scn8amed-J/J (Changed: 21-JUL-06 ) B6C3Fe-a/a-Ca Scn8amed-J (Changed: 15-DEC-04 ) Type Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N33p Appearance
black, unaffected
Related Genotype: a/a Scn8amed/+ or a/a +/+Description
Mice homozygous for the motor end plate disease-Jackson spontaneous mutation (Scn8amed-J) have a phenotype that resembles the original mutation (Scn8amed). 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 | ||
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| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Krt71Ca allele
000124 B6.Cg-KitlSl Krt71Ca/J View Strains carrying Krt71Ca (1 strain)
Strains carrying a allele
View Strains carrying a (104 strains)
Strains carrying other alleles of Krt71
001274 BALB/c-Krt71Ca-9J/J 001755 BALB/cBy-Krt71Ca-10J/J 000291 C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J View Strains carrying other alleles of Krt71 (3 strains)
Strains carrying other alleles of Scn8a
003799 B6.D2-Scn8amed-jo/J 005463 B6;CByJ-Scn8a7J/J 003798 C3Fe.Cg-Scn8amed/J 004102 C57BL/6J-Scn8a4J/J 004105 C57BL/6J-Scn8a5J/J View Strains carrying other alleles of Scn8a (5 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (81 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Scn8amed-J/Scn8amed-J
involves: STOCK Krt71Ca
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:141236)
- mice exhibit an ataxic gait
- ataxia (MGI Ref ID J:141236)
- mice exhibit an ataxic gait
- dystonia (MGI Ref ID J:141236)
- chronic
- tremors (MGI Ref ID J:141236)
- muscle phenotype
- dystonia (MGI Ref ID J:141236)
- chronic
- life span-post-weaning/aging
- *normal* life span-post-weaning/aging (MGI Ref ID J:141236)
- mice exhibit a normal lifespan
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Krt71Ca related
Scn8amed-J relatedDermatology Research
Skin and Hair Texture Defects
Cell Biology Research
Channel and Transporter Defects
sodium
Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects
Neurobiology Research
Ataxia (Movement) Defects
Channel and Transporter Defects
sodium
Neuromuscular Defects
| Allele Symbol | Krt71Ca | ||
|---|---|---|---|
| Allele Name | caracul | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Ca; | ||
| Strain of Origin | Swiss stock | ||
| Gene Symbol and Name | Krt71, keratin 71 | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | AA589543; Ca; Cu; K6IRS1; KRT6IRS; KRT6IRS1; Krt2-6g; MGC119390; MGC119391; caracul; curly; expressed sequence AA589543; keratin complex 2, basic, gene 6g; mK6irs; mK6irs1; | ||
| Molecular Note | Sequence analysis of Krt2-6g identified the transversion of an adenosine to a cytosine at nucleotide 1292, resulting in an alanine to aspartic acid missense mutation at codon 431 (A431D). | ||
| Allele Symbol | Scn8amed-J | ||
| Allele Name | motor end plate disease Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | medJ; seal; | ||
| Strain of Origin | STOCK Krt71 | ||
| Gene Symbol and Name | Scn8a, sodium channel, voltage-gated, type VIII, alpha | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | AI853486; C630029C19Rik; CerIII; MED; NMF335; NaCh6; Nav1.6; PN4; RIKEN cDNA C630029C19 gene; ataxia 3; degenerating muscle; dmu; expressed sequence AI853486; med; mnd-2; mnd2; motor end-plate disease; neurological 14; neuroscience mutagenesis facility, 2; neuroscience mutagenesis facility, 335; neuroscience mutagenesis facility, 58; nmf2; nmf335; nmf58; nur14; seal; | ||
| General Note | This Scn8amed remutation occurred at The Jackson Laboratory on the same chromosome as the very closely linked gene Krt2-6g in a stock carrying that gene (J:6191). Homozygotes resemble Scn8amed 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 Scn8amed-J is a severe hypomorph (J:53340). The modifier locus Scnm1 on chromosome 3 influences the phenotype of homozygotes for the Scn8amed-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 codons close to the N terminus of the protein. [MGI Ref ID J:34154] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
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):1819-27. [PubMed: 11532991] [MGI Ref ID 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):721-33. [PubMed: 14573483] [MGI Ref ID 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):429-36. [PubMed: 7049455] [MGI Ref ID 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):471-9. [PubMed: 9949206] [MGI Ref ID J:53340]
Krt71Ca relatedScn8amed-J relatedDunn LC. 1937. Caracul, a dominant mutation. J Hered 28:334. [MGI Ref ID J:13054]
Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386] [MGI Ref ID J:25255]
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):721-33. [PubMed: 14573483] [MGI Ref ID J:86407]
Poirier C; Yoshiki A; Fujiwara K; Guenet JL; Kusakabe M. 2002. Hague (Hag). A new mouse hair mutation with an unstable semidominant allele. Genetics 162(2):831-40. [PubMed: 12399393] [MGI Ref ID J:79964]
Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton. [MGI Ref ID J:30359]
Buchner DA; Trudeau M; George AL Jr; Sprunger LK; Meisler MH. 2003. High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot. Genomics 82(4):452-9. [PubMed: 13679025] [MGI Ref ID J:85319]
Buchner DA; Trudeau M; Meisler MH. 2003. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301(5635):967-9. [PubMed: 12920299] [MGI Ref ID J:84898]
Chen K; Sprunger LK; Meisler MH; Waller HJ; Godfrey DA. 1999. Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Res 847(1):85-9. [PubMed: 10564739] [MGI Ref ID J:58473]
Hamann M; Meisler MH; Richter A. 2003. Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. Exp Neurol 184(2):830-8. [PubMed: 14769375] [MGI Ref ID J:87267]
Howell VM; de Haan G; Bergren S; Jones JM; Culiat CT; Michaud EJ; Frankel WN; Meisler MH. 2008. A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse. Genetics 180(3):1419-27. [PubMed: 18791226] [MGI Ref ID J:141236]
Kearney JA; Buchner DA; De Haan G; Adamska M; Levin SI; Furay AR; Albin RL; Jones JM; Montal M; Stevens MJ; Sprunger LK; Meisler MH. 2002. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum Mol Genet 11(22):2765-75. [PubMed: 12374766] [MGI Ref ID J:79617]
Koay G; Heffner R; Heffner H. 2002. Behavioral audiograms of homozygous med(J) mutant mice with sodium channel deficiency and unaffected controls. Hear Res 171(1-2):111-118. [PubMed: 12204355] [MGI Ref ID J:108906]
Kohrman DC; Harris JB; Meisler MH. 1996. Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. J Biol Chem 271(29):17576-81. [PubMed: 8663325] [MGI Ref ID J:34154]
Lane PW. 1976. Scn8a<med-J> - motor end-plate disease-Jackson Mouse News Lett 54:40. [MGI Ref ID J:64101]
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):429-36. [PubMed: 7049455] [MGI Ref ID J:6824]
Sidman RL; Cowen JS; Eicher EM. 1979. Inherited muscle and nerve diseases in mice: a tabulation with commentary. Ann N Y Acad Sci 317:497-505. [PubMed: 289327] [MGI Ref ID J:6191]
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):471-9. [PubMed: 9949206] [MGI Ref ID J:53340]
Sun Y; Godfrey DA; Chen K; Sprunger LK; Rubin AM. 2007. Comparison of gamma-aminobutyrate receptors in the medial vestibular nucleus of control and Scn8a mutant mice. Brain Res 1186:188-93. [PubMed: 17999925] [MGI Ref ID J:130137]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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. | ||
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