Overview

Also Known As: floxed stop Scn1a*A1783V

These conditional Scn1a-A1783V mice express the Dravet Syndrome/SMEI-associated mutation A1783V in the presence of Cre recombinase, and exhibit Dravet-like phenotypes including spontaneous seizures.

Donating Investigator

Ana Mingorance, Dravet Syndrome Foundation, Spain

Genetic overview

Genetic Background	Generation
	N1+pN5 (2019-03-01 00:00:00)

Scn1a^tm1.1Dsf

Allele Type	Gene Symbol	Gene Name
Targeted (Conditional ready (e.g. floxed), Humanized sequence, No functional change)	Scn1a	sodium channel, voltage-gated, type I, alpha

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Research Applications

Neurobiology Research
Research Tools

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Base Price

Starting at:

$255.00 Domestic price for female

333.51 Domestic price for breeder pair

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Details

Detailed Description

Scn1a encodes the large alpha subunit of the type I voltage sensitive sodium channel essential for the generation and propagation of action potentials in nerve and muscle. Several mutations in the domain IV S6 transmembrane region, including A1783V, are associated with SMEI (severe myoclonic epilepsy in infancy) and Dravet Syndrome, a convulsive disorder with psychomotor delay, ataxia, and cognitive impairment.

When these conditional Scn1a mice are bred to mice that express cre recombinase, resulting offspring express the A1783V mutation in the cre-expressing tissues. Depending on the genetic background of the cre line used, mice display a lethal seizure phenotype at about three weeks of age: greater than 80% of heterozygotes survive with a ubiquitous cre on a 129 background, but less than 40% survive on a pure B6 background. Viable mice exhibit spontaneous seizures, motor stereotypies, and hyperactivity. This strain may be useful for studying SMEI and Dravet Syndrome.

Development

A mini-gene cassette containing a loxP site, coding sequence for wild-type exon 26, bpA, FRT-flanked neomycin cassette, and a second loxP site was introduced into intron 25 and a A1783V mutation was introduced into exon 26. The mutation results in a C to T change at nucleotide 5348 altering the corresponding amino acid from alanine to valine at position 1783. The construct was electroporated into unspecified embryonic stem (ES) cells derived from C57BL/6J mice. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to B6.Cg-Tg(ACTFLPe)9205Dym/J (Stock No. 005703) to remove the neomycin cassette. Heterozygous mice were mated and offspring crossed to C57BL/6J for one generation. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Kuo FS; Cleary CM; LoTurco JJ; Chen X; Mulkey DK. 2019. Disordered breathing in a mouse model of Dravet syndrome. Elife 8PubMed: 31025941 MGI: J:274710
Ricobaraza A; Mora-Jimenez L; Puerta E; Sanchez-Carpintero R; Mingorance A; Artieda J; Nicolas MJ; Besne G; Bunuales M; Gonzalez-Aparicio M; Sola-Sevilla N; Valencia M; Hernandez-Alcoceba R. 2019. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Sci Rep 9(1):14172PubMed: 31578435 MGI: J:279538

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Genetics

Scn1a^tm1.1Dsf

Allele Symbol: Scn1a^tm1.1Dsf

Allele Name	targeted mutation 1.1, Dravet Syndrome Foundation Spain
Allele Type	Targeted (Conditional ready (e.g. floxed), Humanized sequence, No functional change)
Allele Synonym(s)	Scn1a^tm1.1Dsf; targeted mutation 1.1, Dravet Syndrome Foundation Spain
Gene Symbol and Name	Scn1a, sodium channel, voltage-gated, type I, alpha
Gene Synonym(s)	Nav1.1; SMEI; HBSCI; NAC1; FEB3; FEB3A; SCN1; EIEE6; FHM3; GEFSP2
Strain of Origin	C57BL/6J
Chromosome	2
Molecular Note	A mini-gene cassette containing a loxP site, coding sequence for wild-type exon 26, bpA, an FRT-flanked neomycin cassette, and a second loxP site was introduced into intron 25 and a A1783V mutation was introduced into exon 26. The mutation results in a C to T change at nucleotide 5348 altering the corresponding amino acid from alanine to valine at position 1783.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Neurobiology Research
- Epilepsy
  - Dravet Syndrome
- Cre-lox System
  - loxP-flanked Sequences
Research Tools
- Cre-lox System
  - loxP-flanked Sequences

Mammalian Phenotype Terms by Genotype

References

Kuo FS; Cleary CM; LoTurco JJ; Chen X; Mulkey DK. 2019. Disordered breathing in a mouse model of Dravet syndrome. Elife 8PubMed: 31025941 MGI: J:274710
Ricobaraza A; Mora-Jimenez L; Puerta E; Sanchez-Carpintero R; Mingorance A; Artieda J; Nicolas MJ; Besne G; Bunuales M; Gonzalez-Aparicio M; Sola-Sevilla N; Valencia M; Hernandez-Alcoceba R. 2019. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Sci Rep 9(1):14172PubMed: 31578435 MGI: J:279538

Additional References

Styr B; Gonen N; Zarhin D; Ruggiero A; Atsmon R; Gazit N; Braun G; Frere S; Vertkin I; Shapira I; Harel M; Heim LR; Katsenelson M; Rechnitz O; Fadila S; Derdikman D; Rubinstein M; Geiger T; Ruppin E; Slutsky I. 2019. Mitochondrial Regulation of the Hippocampal Firing Rate Set Point and Seizure Susceptibility. Neuron 102(5):1009-1024.e8PubMed: 31047779 MGI: J:276037

Additional - Scn1a^tm1.1Dsf related

Technical Support

Contact Technical Support

Genotyping Protocols
- Separated PCR: Scn1a^tm1.#Dsf
- Genotyping resources and troubleshooting
Breeding Considerations

While maintaining a live colony, these mice are bred as heterozygotes. The donating investigator has not attempted to generate homozygous mice to date (February 2015).
- Additional Breeding and Husbandry Support
Mating System
- Wild-type x Heterozygote
- C57BL/6J (000664) x Heterozygote
- Heterozygote x C57BL/6J (000664)
- Heterozygote x Wild-type
Citation
When using the floxed stop Scn1a*A1783V mouse strain in a publication, please cite the originating article(s) and include JAX stock #026133 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

AX18 (Maximum)

Pricing & Availability

Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Breeder Pair

Sex

Genotype

Price

Female
Male

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or wildtype for

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

Notice regarding distribution of this strain.

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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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.

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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.

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Also Known As: floxed stop Scn1a*A1783V

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Scn1atm1.1Dsf

Allele Symbol: Scn1atm1.1Dsf

Disease Terms

Research Areas By Genotype

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

Mammalian Phenotype Terms by Genotype

References

Additional References

Additional - Scn1atm1.1Dsf related

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Animal Health Reports

Live Mouse

Breeder Pair

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Scn1a^tm1.1Dsf

Allele Symbol: Scn1a^tm1.1Dsf

Additional - Scn1a^tm1.1Dsf related