Strain Name: |
B6C3Fe a/a-Krt71Ca Scn8amed-J/J |
|---|---|
Stock Number: |
000304 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6C3Fe a/a-Krt2-6gCa Scn8amed-J/J (Changed: 21-JUL-06
) |
|
B6C3Fe-a/a-Ca Scn8amed-J (Changed: 15-DEC-04
) | |
| Genes & Alleles | Krt71; Krt71Ca; Scn8a; Scn8amed-J; a; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation N33p Appearance
black, unaffected
Related Genotype: a/a Scn8amed/+ or a/a +/+Strain 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.
Gene & Allele Details
| Allele Symbol | Krt71Ca | ||
|---|---|---|---|
| Allele Name | caracul | ||
| 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 | ||
| 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; degenerating muscle; dmu; expressed sequence AI853486; med; motor end-plate disease; neuroscience mutagenesis facility, 2; neuroscience mutagenesis facility, 335; neuroscience mutagenesis facility, 58; nmf2; nmf335; nmf58; 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 | ||
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Krt71Ca allele
000124 B6.Cg-KitlSl Krt71Ca/J View Strains carrying Krt71Ca (1 strain)
001274 BALB/c-Krt71Ca-9J/J 001755 BALB/cBy-Krt71Ca-10J/J 000291 C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
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
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
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6C3Fe a/a-Krt71Ca Scn8amed-J/J |
| Stock Number: | 000304 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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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
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