Overview

Also Known As:Scn8a^8J

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.

Genetic overview

Genetic Background	Generation

Scn8a^8J

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Scn8a	sodium channel, voltage-gated, type VIII, alpha

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Research Applications

Neurobiology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

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.

Development

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.

Selected References

Papale LA; Beyer B; Jones JM; Sharkey LM; Tufik S; Epstein M; Letts VA; Meisler MH; Frankel WN; Escayg A. 2009. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet 18(9):1633-41PubMed: 19254928 MGI: J:147199

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Genetics

Scn8a^8J

Allele Symbol: Scn8a^8J

Allele Name	8 Jackson
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	Scn8a^V929F; 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.

Disease/Phenotype

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

epilepsy

Research Areas By Phenotype

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

Neurobiology Research
- Epilepsy
- Ataxia (Movement) Defects
- Channel and Transporter Defects
  - sodium
Mouse/Human Gene Homologs
- Epilepsy

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^8J/Scn8a⁺
involves: C3HeB/FeJ * C57BL/6J

behavior/neurological phenotype

abnormal spike wave discharge
- mice exhibit fewer SWD compared to homozygous mice
- the number of SWD per hour decreases with additional crosses to C57BL/6 mice
- mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz
- SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching
- ethosuximide treatment results in 6-fold fewer and shorter SWD
- the average incidence of SWD is higher Scn8a^med heterozygotes

nervous system phenotype

abnormal spike wave discharge
- mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz
- SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching
- mice exhibit fewer SWD compared to homozygous mice
- the average incidence of SWD is higher Scn8a^med heterozygotes
- the number of SWD per hour decreases with additional crosses to C57BL/6 mice
- ethosuximide treatment results in 6-fold fewer and shorter SWD

Genotype: Scn8a^8J/Scn8a^8J
involves: C3HeB/FeJ * C57BL/6J

nervous system phenotype

abnormal spike wave discharge
- mice exhibit spike wave discharge (SWD) with a burst frequency of 4 to 5 Hz
- mice exhibit higher SWD compared to heterozygous mice

behavior/neurological phenotype

abnormal locomotor behavior
- impaired with weak and unsteady gait

abnormal spike wave discharge
- mice exhibit spike wave discharge (SWD) with a burst frequency of 4 to 5 Hz
- mice exhibit higher SWD compared to heterozygous mice

abnormal gait
- weak and unsteady

growth/size/body region phenotype

decreased body size

mortality/aging

postnatal lethality
- Normal - however, mice kept with dams and fed ground pellets survive as long as 7 weeks
- mice do not survive beyond weaning

premature death
- mice survive as long as 7 weeks when kept with dams and fed ground pellets

References

Papale LA; Beyer B; Jones JM; Sharkey LM; Tufik S; Epstein M; Letts VA; Meisler MH; Frankel WN; Escayg A. 2009. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet 18(9):1633-41PubMed: 19254928 MGI: J:147199

Additional - Scn8a^8J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Scn8a<8J>-SEQ
- End Point Analysis:Scn8a<8J> EP
- Genotyping resources and troubleshooting
Citation
When using the Scn8a^8J mouse strain in a publication, please cite the originating article(s) and include JAX stock #012945 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<8J>

Related Products and Services

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

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

Also Known As:Scn8a8J

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Scn8a8J

Allele Symbol: Scn8a8J

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Scn8a8J/Scn8a+involves: C3HeB/FeJ * C57BL/6J

behavior/neurological phenotype

nervous system phenotype

Genotype: Scn8a8J/Scn8a8Jinvolves: C3HeB/FeJ * C57BL/6J

nervous system phenotype

behavior/neurological phenotype

growth/size/body region phenotype

mortality/aging

References

Additional - Scn8a8J related

Genotyping Protocols

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Also Known As:Scn8a^8J

Scn8a^8J

Allele Symbol: Scn8a^8J

Genotype: Scn8a^8J/Scn8a⁺
involves: C3HeB/FeJ * C57BL/6J

Genotype: Scn8a^8J/Scn8a^8J
involves: C3HeB/FeJ * C57BL/6J

Additional - Scn8a^8J related