Strain Name:
B6J.Cg-Atp1a3tm1.1Mika/Mmjax
Stock Number:
069591-JAX
Citation ID:
RRID:MMRRC_069591-JAX
Other Names:
B6.129(Cg)-Atp1a3^tm1.1Mika/Mmjax; Atp1a3^E815K

Strain Information

Atp1a3tm1.1Mika
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1.1, Mohamad A Mikati
Synonyms: Matoub, Matb-, Atp1a3E815K
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Knock-In
Atp1a3
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Synonyms: Atpa-2
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Knock-In
NCBI: 232975
HGNC: HGNC:801
Homologene: 113729
Genetic Alterations
The targeting construct predicts a glutamic-acid-to-lysine amino acid substitution at position 815 (E815K, GAG to AAG) of the Atp1a3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide) gene on chromosome 7. The construct's FRT-flanked neomycin cassette was removed.
HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_001290469.1
  • Genbank RefSeq, protein: NP_001277398.1
  • Variant, nucleic acid level: c.2443G>A
  • Variant, amino acid level, predicted: p.Glu815Lys (E815K)
  • Check this variant: LUMC Mutalyzer
Genotype Determination
ES Cell Line
R1 derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+
Phenotype
Atp1a3E815K is lethal in the homozygous state. Mice heterozygous for Atp1a3E815K develop spontaneous seizures as early as the first few days of life, as well as at P21 to P28. Changes in the environment (e.g., new cages, handling, etc.) increase the seizure (and mortality) incidence. Mice require fewer electrical stimulations to reach the kindled state. Mice have a high incidence of mortality especially in the second quarter of life and no mice have survived beyond 264 days. Treatment with flunarizine (used to treat AHC) reduces the number of hemiplegic attacks. Atp1a3E815K female mice are smaller in size than males and wild-type littermates, although both sexes are smaller at wean age. In addition, mice have varying degrees of impaired episodic memory (novel object recognition test), decreased exploratory behavior, reduced locomotor activity, hind-limb clasping (tail suspension), abnormal gait, paroxysmal dystonia, and hemiplegia (forced swim test/water submersion), and perturbed vestibular responses.

The MMRRC at The Jackson Laboratory is unable to ship this strain as live mice due to its severe phenotype.

MeSH Terms
  • Animals
  • Disease Models, Animal
  • Exploratory Behavior/physiology
  • Female
  • Gene Knock-In Techniques/methods
  • Hand Strength/physiology
  • Hemiplegia/genetics
  • Hemiplegia/physiopathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Motor Activity/physiology
  • Mutation/genetics
  • Sodium-Potassium-Exchanging ATPase/genetics
Strain Development

The targeting construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-Kitl+-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts, and the resulting chimeric animals were crossed to C57BL/6 females, and offspring were crossed to an unspecified Flp deleter to remove the neomycin cassette. Mice were backcrossed to C57BL/6J for at least 5 generations. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.

Suggested Control Mice
C57BL/6J
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 csmmrrc@jax.org. Older strains may not have this information.
  • Developmental Biology
  • Models for Human Disease
  • Neurobiology
Donor
Mohamad Mikati, Ph.D., Duke University.
Primary Reference

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehart E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. Novel E815K knock-in mouse model of alternating hemiplegia of childhood. Neurobiol Dis. 2018 Nov;119:100-112. doi: 10.1016/j.nbd.2018.07.028. Epub 2018 Jul 30. (Medline PMID: 30071271)

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross and sib-mating
Generation
N6 (C57BL/6J), F?
Overall Breeding Performance
Undetermined
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
4 Weeks
Average Pups Weaned
Undetermined

Order Request Information

The MMRRC at The Jackson Laboratory is unable to ship this strain as live mice due to its severe phenotype. Please contact Customer Service for the availability of frozen material by email at csmmrrc@jax.org.

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
069591-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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.