Homozygous mutants exhibit a high incidence of spike wave discharges (SWD), impaired motor function, unsteady gait, and small size. This mutant mouse strain may be useful in studies of human absence epilepsy.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | Scn8a | sodium channel, voltage-gated, type VIII, alpha |
Scn8a is a voltage-gated, type VIII sodium channel involved in electrical signaling between cells. The 8J allele is a point mutation located in the pore region of domain 2. On a mixed C57BL/6J and C3HeB/FeJ background, mice homozygous for the mutation exhibit a high incidence of spike wave discharges (SWD), impaired motor function, unsteady gait, and small size. SWD burst frequency is recorded at 4-5 Hz. Homozygous mice die by 21 days of age, although with ground pellets some may live to 7 weeks. In mixed background heterozygotes, the SWD burst frequency is 7-9 Hz. SWD are characterized by high amplitude, significant duration and high frequency and occur between periods of locomotor activity. Severity of the SWD phenotype is dependent on genetic background. Homozygosity for C3HeB/FeJ alleles increases severity, while homozygosity for C57BL/6J alleles decreases severity. This mutant mouse strain may be useful in studies of human absence epilepsy.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
This phenotypic deviant was identified following multidose ethylnitrosourea (ENU) treatments to induce mutations in male founder C57BL/6J mice during a forward genetic screen for recessive neurological phenotypes at the ReproGenomics Facility at The Jackson Laboratory. Mutagenized males were outcrossed to C3HeB/FeJ females. Progeny were backcrossed to C57BL/6J mice for 13 generations. The mutation results in a G to T transversion in exon 13, altering the corresponding amino acid from valine to phenylalanine at codon 929 (V929F) located in the pore region of domain 2. The strain was cryopreserved in 2012.
Allele Name | 8 Jackson |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | Scn8aV929F; V929F |
Gene Symbol and Name | Scn8a, sodium channel, voltage-gated, type VIII, alpha |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 15 |
Molecular Note | ENU mutagenesis induced a G to T transition at position 2785 that results in the amino acid substitution of phenylalanine for valine at position 929 (V929F). This substitution occurs in the pore region of the protein. |
When using the Scn8a8J mouse strain in a publication, please cite the originating article(s) and include JAX stock #012945 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Scn8a<8J> |
Frozen Mouse Embryo | B6(C3Fe)-Scn8a<8J>/Frk | $2595.00 |
Frozen Mouse Embryo | B6(C3Fe)-Scn8a<8J>/Frk | $2595.00 |
Frozen Mouse Embryo | B6(C3Fe)-Scn8a<8J>/Frk | $3373.50 |
Frozen Mouse Embryo | B6(C3Fe)-Scn8a<8J>/Frk | $3373.50 |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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