Strain Name:
STOCK Pex1tm1.2Sjms/Mmjax
Stock Number:
042271-JAX
Citation ID:
RRID:MMRRC_042271-JAX

Strain Information

Pex1tm1.2Sjms
Name: peroxisomal biogenesis factor 1; targeted mutation 1.2, Steven Steinberg
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 5
Alteration at locus: Knockout
Pex1
Name: peroxisomal biogenesis factor 1
Synonyms: ZWS1, 5430414H02Rik, E330005K07Rik, peroxisome biogenesis factor 1
Type: Gene
Species: Mouse
Chromosome: 5
Alteration at locus: Knockout
NCBI: 71382
HGNC: HGNC:8850
Homologene: 27006
Genetic Alterations
This allele of the Pex1 gene has exons 12-13 deleted. PEX1 is associated with Zellweger spectrum disorder.
ES Cell Line

Not Specified

Phenotype
Pex1 or peroxisomal biogenesis factor 1 encodes a member of the AAA ATPase family that is often anchored to a peroxisomal membrane where it forms a heteromeric complex involved in peroxisome biogenesis. Perixosomes are involved in the breakdown of long chain fatty acids through beta-oxidation. This allele is a deletion of exons 12-13. Heterozygotes are viable and fertile. Homozygous mice are not viable. As the mice are characterized, we will modify the strain description and add phenotype data. This strain may be useful for studying Zellweger spectrum disorder.
Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

  • phenotype not analyzed
MeSH Terms
  • ATPases Associated with Diverse Cellular Activities
  • Adenosine Triphosphatases/genetics
  • Adenosine Triphosphatases/metabolism
  • Animals
  • Animals, Newborn
  • Bile Acids and Salts/metabolism
  • Disease Models, Animal
  • Fatty Acids/blood
  • Female
  • Fibroblasts/metabolism
  • Gene Expression Profiling
  • Growth and Development
  • Hearing
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins/metabolism
  • Mice
  • Mice, Mutant Strains
  • Molecular Chaperones/metabolism
  • Mutation, Missense/genetics
  • Phenotype
  • Retina/pathology
  • Retina/physiopathology
  • Sexual Behavior, Animal
  • Skin/pathology
  • Survival Analysis
  • Vision, Ocular
  • Zellweger Syndrome/blood
  • Zellweger Syndrome/genetics
  • Zellweger Syndrome/pathology
  • Zellweger Syndrome/physiopathology
Strain Development
A targeting vector was designed to insert a loxP site into intron 11, a loxP-FRT-flanked neomycin cassette into intron 13 and a G844D point mutation into exon 15. The mutation results in a G to D change at nucleotide 2531 altering the corresponding amino acid from glycine to aspartic acid at position 844. The construct was electroporated into unspecified embryonic stem (ES) cells derived from hybrid 129xC57BL/6 mice. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to an unspecified FLPe transgenic mouse (on a C57BL/6 background) to remove the neomycin cassette. Heterozygous mice were mated and offspring crossed to C57BL/6N for two generations. Mice were then crossed to B6N.Cg-Tg(Sox2-cre)1Amc/J to remove exons 12 and 13. Additional crosses bred out the Tg(Sox2-cre)1Amc allele.
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 csmmrrc@jax.org. Older strains may not have this information.
Donor
Cat Lutz, Ph.D., The Jackson Laboratory.
Primary Reference

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab. 2014 Apr;111(4):522-32. doi: 10.1016/j.ymgme.2014.01.008. (Medline PMID: 24503136)

Colony and Husbandry Information

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
Undetermined
MMRRC Breeding System
Sib-mating
Generation
N3
Overall Breeding Performance
Undetermined
Viability and Fertility: Female Male Comments
Homozygotes are viable: Undetermined Undetermined
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Undetermined Undetermined
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
4 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
042271-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
042271-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.