Loading...

Strain Detail Sheet

Strain Name:
STOCK Atp1a3tm1.1Mika/LutzyMmjax
Stock Number:
071376-JAX
Citation ID:
RRID:MMRRC_071376-JAX
Other Names:
Atp1a3^E815K , Matoub , Matb+/-

Strain Information

Gene Details

Atp1a3tm1.1Mika
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1.1, Mohamad A Mikati
Synonyms: Matb-, Atp1a3E815K, Matoub
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

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
The targeting construct contains a glutamic acid to to lysine amino acid substitution at position 815 (E815K, GAG to AAG) Atp1a3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide) gene on chromosome 7. The construct also included an FRT-flanked neomycin cassette. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. 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. In an attempt to improve survival, mice were then crossed to B6C3F1/J inbred mice (JAX Stock No. 100010) for several generations and maintained on the segregating background.
Genotype Determination
ES Cell Line
R1 derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+

Strain Description

Phenotype
Atp1a3E815K knock-in mice carry the E815K amino acid substitution. On this STOCK background, which segregates the C57BL/6 and C3H genomes (as well as some 129), mice exhibit a less severe phenotype than the C57BL/6 congenic background (MMRRC Stock No. 069591). Of 200 heterozygous mice aged to 11 weeks, no mice have exhibited seizures or have died. In addition, female mice are smaller in size than wildtype or males, both sexes exhibit a slight tremor and dystonia at 6 weeks of age with a 70% penetrance. It is assumed that the mutation is lethal in the homozygous state, although it has not yet been tested.

Conditional phenotype: no

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 contains a glutamic acid to to lysine amino acid substitution at position 815 (E815K, GAG to AAG) Atp1a3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide) gene on chromosome 7. The construct also included an FRT-flanked neomycin cassette. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. 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. In an attempt to improve survival, mice were then crossed to B6C3F1/J inbred mice (JAX Stock No. 100010) for several generations and maintained on the segregating background.
Suggested Control Mice
littermates, B6C3HF1 hybrids

MMRRC Genetic QC

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.

Research Applications

  • Models for Human Disease
  • Neurobiology

Strain Origin

Donor
Cat Lutz, Ph.D., The Jackson Laboratory.
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

Special Considerations

N/A

Health Status Report

For more information about this colony's health status contact csmmrrc@jax.org

Appearance

Coat Color
Agouti
Eye
Black

Breeding

MMRRC Breeding System
Sib-mating
Generation
N/A
Overall Breeding Performance
Undetermined

Reproductive Statistics

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
4 to 6

Order Request Information

Availability Level

Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at csmmrrc@jax.org for more details.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

Conditions of Distribution

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

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.

Fees

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
071376-JAX-HET-F
071376-JAX-HET-M
071376-JAX-WT-F
071376-JAX-WT-M
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type Male
 $229.00 / Non-Profit Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
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.