Strain Name:
B6.Cg-Pex1tm1.1Sjms/Mmjax
Stock Number:
037405-JAX
Citation ID:
RRID:MMRRC_037405-JAX
Other Names:
Pex1-G844D

Gene Information

Pex1tm1.1Sjms
Name: peroxisomal biogenesis factor 1; targeted mutation 1.1, Steven Steinberg
Synonyms: Pex1-G844D
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 5
Alteration at locus: Knock-In
Pex1
Name: peroxisomal biogenesis factor 1
Synonyms: ZWS1, 5430414H02Rik, E330005K07Rik, peroxisome biogenesis factor 1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 5
Alteration at locus: Knock-In
NCBI: 71382
HGNC: HGNC:8850
Homologene: 27006
Genetic Alterations

Amino acid substitution (G844D) within exon 15. Additionally, LoxP sites were introduced in introns 11 and 13 for future crosses with Cre recombinase mice for the creation of Pex1 conditional knock-out animals.

Genotype Determination
ES Cell Line
Not specified
Phenotype

Homozygous: Mice display the phenotype associated with PEX1-G843D homozygosity in humans (mild Zellweger spectrum disorder or infantile Refsum disease). Mice exhibit reduced survival with about 50% surviving to greater than 1 year of life. Mice also exhibit growth retardation and fatty livers with cholestasis.

Heterozygous: No observable phenotype.

Expected Phentotype After Cre-excision: Not evaluated.

Mammalian Phenotype Terms
Allelic Composition: Pex1tm1.1Sjms/Pex1tm1.1Sjms (Genetic Background: involves: 129 * C57BL/6N )

Strain Development

Correctly targeted ES cells derived from (129 x C57BL/6) were injected into blastocysts for implantation. Chimeras were generated and bred with C57BL/6 FLPe transgenic mice to eliminate the neomycin cassette. Germ line transmission of the knock-in mutation was con rmed in one male mouse and one female mouse, which were mated together to start the colony. The line was then maintained as random intra-strain mating between heterozygotes and C57BL/6N wild type mice.

Suggested Control Mice
Wild-type littermates
  • Metabolism
  • Models for Human Disease
    • Zellweger spectrum disorder
    • Infantile Refsum disease
  • Neurobiology
  • Sensorineural
Donor
Steven Steinberg, Ph.D., Johns Hopkins University School of Medicine.

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black or Agouti
Other
Homozygotes are growth retarded and reach only about half the weight of their sex-matched littermates once reaching adulthood.
MMRRC Breeding System
Random intra-strain mating
Breeding Scheme(s)
  • Wild-type female x Heterozygous male from the colony or reciprocal mating
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: No Reduced
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 6 months 8 months
Average litter size
5-9
Recommended wean age
3-4 weeks

Order Request Information

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.

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
037405-JAX-HET-F
037405-JAX-HET-M
037405-JAX-WT-F
037405-JAX-WT-M
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type Male
$218.00 / 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.).
037405-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.