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Strain Name:
B6(Cg)-Egln1tm3.1(EGLN1)Fsl/Mmjax
Stock Number:
075765-JAX
Citation ID:
RRID:MMRRC_075765-JAX
Other Names:
Phd2 WT

Strain Information

Egln1
Name: egl-9 family hypoxia-inducible factor 1
Synonyms: SM-20, ORF13, Phd2, Hif-p4h-2
Type: Gene
Species: Mouse
Chromosome: 8
NCBI: 112405
HGNC: HGNC:1232
Homologene: 56936
Genetic Alterations
Phd2WT knock-in (KI) mice have endogenous exon 1 of the Egln1 gene replaced with human wildtype sequence. This mouse line may be useful as a control to the Phd2Tib mouse line (RRID:MMRRC_075764-JAX) when studying oxygen-sensing and the hypoxia-inducible factor (HIF) pathway.
ES Cell Line
EAP6
Phenotype

Prolyl hydroxylase domain protein 2 (PHD2), coded by Egln2, is a protein that plays a crucial role in regulating oxygen levels in the body by hydroxylating hypoxia-inducible factor alpha (HIF-α), which is a subunit of the hypoxia-inducible factor (HIF) complex. HIF is necessary for oxygen homeostasis by regulating metabolic adaptation, erythropoiesis (red blood cell production), respiration, and angiogenesis. These Phd2WT mice have a humanized exon 1 replacing endogenous exon 1 of the Egln2 gene.

Homozygous mice are viable and fertile with no overt phenotype. Phd2WT may be useful as a control to the Phd2Tib mouse line (RRID:MMRRC_075764-JAX) when studying oxygen-sensing and the hypoxia-inducible factor (HIF) pathway.

MeSH Terms
  • Amino Acid Motifs
  • Animals
  • CRISPR-Cas Systems/genetics
  • Catalytic Domain
  • Erythropoietin/blood
  • Erythropoietin/genetics
  • Erythropoietin/metabolism
  • Gene Knock-In Techniques
  • HSP90 Heat-Shock Proteins/chemistry
  • HSP90 Heat-Shock Proteins/metabolism
  • Hematocrit
  • Humans
  • Hydroxylation
  • Hypoxia-Inducible Factor 1, alpha Subunit/metabolism
  • Hypoxia-Inducible Factor-Proline Dioxygenases/antagonists & inhibitors
  • Hypoxia-Inducible Factor-Proline Dioxygenases/genetics
  • Hypoxia-Inducible Factor-Proline Dioxygenases/metabolism
  • Mice
  • Mice, Inbred C57BL
  • Protein Binding
  • RNA, Messenger/metabolism
  • Recombinant Proteins/biosynthesis
  • Recombinant Proteins/chemistry
  • Recombinant Proteins/isolation & purification
  • Small Molecule Libraries/chemistry
  • Small Molecule Libraries/metabolism
  • Zinc Fingers
  • Adaptation, Physiological
  • Alleles
  • Altitude
  • Basic Helix-Loop-Helix Transcription Factors/genetics
  • Basic Helix-Loop-Helix Transcription Factors/metabolism
  • DNA-Binding Proteins/genetics
  • DNA-Binding Proteins/metabolism
  • Hypoxia/physiopathology
  • Hypoxia-Inducible Factor-Proline Dioxygenases/physiology
  • Loss of Function Mutation
  • Mice, Knockout
  • Phenotype
  • Selection, Genetic
  • Tibet
Strain GQC Summary
Gene Specific Genotyping:

To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

Background Genetic Quality:

The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

Suggested Control Mice
Littermates of all relevant genotypes.
  • Internal/Organ
  • Models for Human Disease
  • Research Tools
Donor
Frank Lee, M.D., Perelman School of Medicine, University of Pennsylvania.
Primary Reference

Arsenault PR, Song D, Bergkamp M, Ravaschiere AM, Navalsky BE, Lieberman PM, Lee FS. Identification of Small-Molecule PHD2 Zinc Finger Inhibitors that Activate Hypoxia Inducible Factor. Chembiochem. 2016 Dec 14;17(24):2316-2323. doi: 10.1002/cbic.201600493. Epub 2016 Nov 11. (Medline PMID: 27770548)

Song D, Navalsky BE, Guan W, Ingersoll C, Wang T, Loro E, Eeles L, Matchett KB, Percy MJ, Walsby-Tickle J, McCullagh JSO, Medina RJ, Khurana TS, Bigham AW, Lappin TR, Lee FS. Tibetan PHD2, an allele with loss-of-function properties. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12230-12238. doi: 10.1073/pnas.1920546117. Epub 2020 May 15. (Medline PMID: 32414920)

Strain Development
The Phd2WT targeting vector was designed by replacing the endogenous exon 1 of the egl-9 family hypoxia-inducible factor 1 (Egln1) gene, with human exon 1 sequence. The targeting construct also contains a loxP-flanked neomycin selection cassette. The construct was electroporated into C57BL/6-derived EAP6 embryonic stem (ES) cells and correctly targeted ES cells were injected into recipient blastocysts. Chimeric mice were bred to B6(Cg)-Tyrc-2J/J mice to confirm germline transmission. Resulting Phd2WT mice were then crossed to the C57BL/6-Gt(ROSA)26Sortm16(Cre)Arte mouse line to remove the floxed neomycin cassette. The Cre recombinase allele was removed through selective breeding to C57BL/6J mice. The Phd2WT mouse line was maintained on a C57BL/6 background by the donating laboratory. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes.


Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain’s tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
N/A
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 10 to 12 months Greater than 12 months
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

Order 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
075765-JAX-HOM-F
075765-JAX-HOM-M
075765-JAX-HET-F
075765-JAX-HET-M
075765-JAX-WT-F
075765-JAX-WT-M
Homozygous Female
Homozygous Male
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.

Some MMRRC strains were submitted by the donor as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

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.