Strain Name:
129(B6)-Scn4atm1.1Ljh/Mmmh
Stock Number:
037343-MU
Citation ID:
RRID:MMRRC_037343-MU

Strain Information

Scn4atm1.1Ljh
Name: sodium channel, voltage-gated, type IV, alpha; targeted mutation 1.1, Lawrence J Hayward
Synonyms: SCN4aM1592V
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 11
Alteration at locus: Knock-In
Scn4a
Name: sodium channel, voltage-gated, type IV, alpha
Synonyms: SkM1, mH2, Nav1.4
Type: Gene
Species: Mouse
Chromosome: 11
Alteration at locus: Knock-In
NCBI: 110880
Homologene: 283
Genetic Alterations
The targeting vector inserts a missense substitution changing a methionine to a valine at amino acid position 1592 in exon 24 and a loxP flanked neo cassette in intron 23. The neo cassette is removed by transient infection with a cre recombinase expressing plasmid leaving a single loxP site downstream of exon 23.
Genotype Determination
ES Cell Line
J1 derived from 129S4/SvJae
Phenotype

Homozygous: Most homozygous mice die before 30 days, although a few live longer. Homozygotes appear smaller, have difficulty feeding, and exhibit an accelerated myopathy characterized by increased fiber size variation and vacuolar structures within muscle fibers.

Heterozygous: Skeletal muscle phenotype with susceptibility to hyperkalemic periodic paralysis (loss of muscle excitability and weakness in a high K environment) and myotonia.

Mammalian Phenotype Terms
Allelic Composition: Scn4atm1.1Ljh/Scn4atm1.1Ljh (Genetic Background: B6.129S4-Scn4atm1.1Ljh )

Allelic Composition: Scn4atm1.1Ljh/Scn4a+ (Genetic Background: B6.129S4-Scn4atm1.1Ljh )

Allelic Composition: Scn4am1Aaa/Scn4atm1.1Ljh (Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J )

MeSH Terms
  • Albuterol/pharmacology
  • Animals
  • Capsaicin/pharmacology
  • Electric Stimulation
  • Mice
  • Monensin/pharmacology
  • Muscle Contraction/physiology
  • Muscle, Skeletal/physiology
  • Paralysis, Hyperkalemic Periodic/metabolism
  • Paralysis, Hyperkalemic Periodic/physiopathology
  • Sodium/metabolism
  • Sodium-Potassium-Exchanging ATPase/genetics
  • Sodium-Potassium-Exchanging ATPase/metabolism
  • Aging/physiology
  • Disease Progression
  • Electrophysiology
  • Gene Expression Regulation
  • Humans
  • Mice, Transgenic
  • Muscle, Skeletal/metabolism
  • Mutation/genetics
  • Myotonia/genetics
  • Myotonia/metabolism
  • Myotonia/pathology
  • Oxidation-Reduction
  • Paralysis, Hyperkalemic Periodic/genetics
  • Paralysis, Hyperkalemic Periodic/pathology
  • Phenotype
  • Potassium/metabolism
  • RNA, Messenger/genetics
  • Sensitivity and Specificity
  • Sodium Channels/genetics
  • Sodium Channels/metabolism
Strain Development
The construct was electroporated into 129S4/SvJae-derived J1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts to produce male chimeras. The neomycin cassette was removed by transient transfection with a Cre recombinase expressing plasmid leaving a single loxP site downstream of exon 23. Offspring with germline integration were crossed to C57BL/6J mice for several generations then maintained by sib-mating. Due to the litter size and survival of the mixed background litters, the B6;129S4 mouse was then crossed to 129/Sv for an additional 10 generations.
Suggested Control Mice
Wild-type littermates
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
    • Hyperkalemic Periodic Paralysis
  • Neurobiology
Donor
Developed by Lawrence J. Hayward, M.D., Ph.D., University of Massachusetts Medical School, submitted by collaborator Stephen Cannon, M.D., Ph.D., University of Texas Southwestern Medical Center at Dallas
Primary Reference

Clausen T, Nielsen OB, Clausen JD, Pedersen TH, Hayward LJ. Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis. J Gen Physiol. 2011 Jul;138(1):117-30. (Medline PMID: 21708955)

Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, et al. Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest. 2008 Apr 1;118(4):1437-49. (Medline PMID: 18317596)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.
Coat Color
Agouti
MMRRC Breeding System
Backcross or Sib-mating
Breeding Scheme(s)
  • Backcross:
    • Wild-type (129/Sv) female x Heterozygous male or reciprocal mating
  • Sib-mating:
    • Wild-type female x Heterozygous male littermate or reciprocal mating
Generation
N10+
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Reduced Reduced
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 6 months 6 months
Average litter size
5-9
Recommended wean age
3 weeks

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The donor or their institution limits the distribution to non-profit institutions only.

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
037343-MU-RESUS Litter recovered from cryo-archive $5,649.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.