Strain Name:
B6.129X1(Cg)-Atp2c1tm1Ges/Mmjax
Stock Number:
036808-JAX
Citation ID:
RRID:MMRRC_036808-JAX
Other Names:
Atp2c1, SPCA1, Secretory Pathway Ca-ATPase isoform 1, Golgi Ca pump

Strain Information

Atp2c1tm1Ges
Name: ATPase, Ca++-sequestering; targeted mutation 1, Gary E Shull
Synonyms: Spca1-
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 9
Alteration at locus: Knockout
Atp2c1
Name: ATPase, Ca++-sequestering
Synonyms: 1700121J11Rik, PMR1, D930003G21Rik, ATP2C1A, SPCA
Type: Gene
Species: Mouse
Chromosome: 9
Alteration at locus: Knockout
NCBI: 235574
Homologene: 56672
Genetic Alterations
Aging mice heterozygous for a null Atp2c1 or SPCA1 (Ca++ sequestering ATPase) allele develop an increased incidence (25%) of squamous cell tumors of keratinized epithelial cells of the skin and esophagus. Homozygous embryos do not survive beyond E10.5 as a result of Golgi stress. This strain may be useful for studying Golgi stress and its role in cancer.
Genotype Determination
ES Cell Line
Not specified
Phenotype
Atp2c1 or SPCA1 (Ca++ sequestering ATPase) encodes a secretory pathway Ca<2+>-ATPase located in the Golgi. This ATPase mediates Golgi uptake and regulation of cytosolic calcium and magnesium ions. Homozygous embryos do not survive beyond E10.5 as a result of Golgi stress. On a Black Swiss background, embryos exhibit incomplete neural tube closure, diminished Golgi lamellae, dilation of Golgi membranes, increased numbers of Golgi bodies, decreased numbers of ribosomes in the rough ER, increased apoptosis, and an increase in cytoplasmic lipids. Mice heterozygous for this allele on a mixed 129 and Black Swiss background are viable and fertile, however aged (20+ months) mice have an increased incidence (25%) of squamous cell tumors of keratinized epithelial cells of the skin and esophagus. This strain may be useful for studying Golgi stress and its role in cancer.
Mammalian Phenotype Terms
Allelic Composition: Atp2c1tm1Ges/Atp2c1tm1Ges (Genetic Background: involves: 129X1/SvJ * Black Swiss )

Allelic Composition: Atp2c1tm1Ges/Atp2c1+ (Genetic Background: involves: 129X1/SvJ * Black Swiss )

MeSH Terms
  • Aging/genetics
  • Aging/metabolism
  • Aging/pathology
  • Animals
  • Apoptosis/genetics
  • Basement Membrane/metabolism
  • Basement Membrane/ultrastructure
  • Calcium-Transporting ATPases/deficiency
  • Calcium-Transporting ATPases/metabolism
  • Carcinoma, Squamous Cell/genetics
  • Carcinoma, Squamous Cell/metabolism
  • Carcinoma, Squamous Cell/pathology
  • Cardiovascular System/embryology
  • Coated Pits, Cell-Membrane/genetics
  • Coated Pits, Cell-Membrane/metabolism
  • Coated Pits, Cell-Membrane/ultrastructure
  • Desmosomes/genetics
  • Desmosomes/metabolism
  • Desmosomes/ultrastructure
  • Embryo Loss/genetics
  • Embryo Loss/metabolism
  • Embryo Loss/pathology
  • Endoplasmic Reticulum, Rough/genetics
  • Endoplasmic Reticulum, Rough/metabolism
  • Endoplasmic Reticulum, Rough/ultrastructure
  • Esophageal Neoplasms/genetics
  • Esophageal Neoplasms/metabolism
  • Esophageal Neoplasms/pathology
  • Female
  • Genetic Predisposition to Disease
  • Golgi Apparatus/metabolism
  • Golgi Apparatus/ultrastructure
  • Hematopoiesis/genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Inbreeding
  • Loss of Heterozygosity/genetics
  • Male
  • Mice
  • Mice, Knockout
  • Neural Tube Defects/embryology
  • Neural Tube Defects/metabolism
  • Neural Tube Defects/pathology
  • Pemphigus, Benign Familial/genetics
  • Pemphigus, Benign Familial/metabolism
  • Pemphigus, Benign Familial/pathology
  • Pregnancy
  • Protein Transport/genetics
  • Ribosomes/metabolism
  • Secretory Vesicles/genetics
  • Secretory Vesicles/metabolism
  • Secretory Vesicles/ultrastructure
  • Skin Neoplasms/genetics
  • Skin Neoplasms/metabolism
  • Skin Neoplasms/pathology
  • Water-Electrolyte Balance/genetics
  • Calcium/metabolism
  • Darier Disease/metabolism
  • Endoplasmic Reticulum/metabolism
  • Secretory Pathway/physiology
Strain Development
A targeting vector containing the neomycin resistance gene was used to replace exons 10-13, representing a region which includes the catalytic phosphorylation site and transmembrane domains 3 and 4. The construct was electroporated into 129-derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were crossed to Black Swiss mice. Mice from the colony were then backcrossed to C57BL/6 for at least 6 generations. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.
Suggested Control Mice
Wild-type littermates or C57BL/6
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.
  • Apoptosis
  • Cancer
  • Cell Biology
  • Dermatology
  • Models for Human Disease
    • Hailey-Hailey Disease, a skin condition involving keratinocytes
Donor
Gary Shull, Ph.D., University of Cincinnati College of Medicine.
Primary Reference

Okunade GW, Miller ML, Azhar M, Andringa A, Sanford LP, Doetschman T, Prasad V, Shull GE. Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. J Biol Chem. 2007 Sep 7;282(36):26517-27. (Medline PMID: 17597066)

Shull GE, Miller ML, Prasad V. Secretory pathway stress responses as possible mechanisms of disease involving Golgi Ca2+ pump dysfunction. Biofactors. 2011 May-Jun;37(3):150-8. (Medline PMID: 21674634)

Colony and Husbandry Information

No special requirements. Heterozygotes appear healthy until squamous cell tumors develop.

Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-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 csmmrrc@jax.org.
Coat Color
Black
MMRRC Breeding System
Backcross
Breeding Scheme(s)

C57BL/6 female x Heterozygous male or reciprocal mating.

Generation
N5
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: N/A N/A
Heterozygotes are fertile: Yes Yes Heterozygotes develop squamous cell tumors.
Age Reproductive Decline: unknown unknown
Average litter size
Not provided
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 csmmrrc@jax.org 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
036808-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
036808-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
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.