Strain Name:
B6J.129S7(FVB)-Slc33a1tm1.1Lpu/Mmmh
Stock Number:
068120-MU
Citation ID:
RRID:MMRRC_068120-MU
Other Names:
AT-1S113R/+

Strain Information

Slc33a1tm1.1Lpu
Name: solute carrier family 33 (acetyl-CoA transporter), member 1; targeted mutation 1.1, Luigi Puglielli
Synonyms: AT-1S311R
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knock-In
Slc33a1
Name: solute carrier family 33 (acetyl-CoA transporter), member 1
Synonyms: Acatn, D630022N01Rik
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Knock-In
NCBI: 11416
HGNC: HGNC:95
Homologene: 3476
Genetic Alterations
Site-directed mutagenesis to introduce a serine to arginine substitution at amino acid 113 in the mouse Slc33a1 gene. The neo selection cassette was removed.

Note: The p.Ser113Arg substitution refers to the human protein (encoded by NM_004733.4, c.339T>G; confirmed via Mutalyzer; see below). The positioning also works for the mouse ortholog (see here).


HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_015728.5
  • Genbank RefSeq, protein: NP_056543.2
  • Variant, nucleic acid level: c.339T>G
  • Variant, amino acid level, predicted: p.Ser113Arg (S113R)
  • Check this variant: LUMC Mutalyzer
ES Cell Line
AB2.2
Phenotype
Homozygous mice: lethalHeterozygous mice: neurodegeneration; spastic paraplegia; propensity to inflammation and cancer.
MeSH Terms
  • Acetyl Coenzyme A/metabolism
  • Acetylation
  • Animals
  • Endoplasmic Reticulum/metabolism
  • Infections/genetics
  • Infections/metabolism
  • Inflammation/genetics
  • Inflammation/metabolism
  • Mice
  • Mice, Transgenic
  • Neoplasms/genetics
  • Neoplasms/metabolism
  • Nerve Degeneration/metabolism
  • Nerve Degeneration/pathology
Strain Development
A serine-to-arginine substitution was introduced at amino acid 113, and a floxed pgk-neo cassette was inserted via homologous recombination using AB2.2 ES cells derived from 129S7/SvEvBrd-Hprtb-m2. Cre-mediated recombination removed the neo cassette. Subsequent backcross to C57BL/6J for minimally 5 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.
  • Cell Biology
  • Metabolism
  • Models for Human Disease
  • Neurobiology
Donor
Luigi Puglielli, M.D., University of Wisconsin - Madison.
Primary Reference

Peng Y, Li M, Clarkson BD, Pehar M, Lao PJ, Hillmer AT, Barnhart TE, Christian BT, Mitchell HA, Bendlin BB, Sandor M, Puglielli L. Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer. J Neurosci. 2014 May 14;34(20):6772-89. doi: 10.1523/JNEUROSCI.0077-14.2014. (Medline PMID: 24828632)

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
Black
Eye
Black
MMRRC Breeding System
Backcross and random intra-strain mating
Generation
N5+ (C57BL/6J), F?
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 7 to 9 months 10 to 12 months
Bred to Homozygosity
No
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

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.

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
068120-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
068120-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-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.