Strain Name:

STOCK Egln1tm1Kael/J

Stock Number:

009672

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These mice possess loxP sites on either side of exons 2 and 3 of the Egln1 (EGL nine homolog 1 (C. elegans)) gene. Mice that are homozygous for this floxed allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When crossed with a Cre recombinase-expressing strain, this strain is useful in eliminating tissue-specific expression of the gene (widespread deletion of expression is embryonic lethal). This strain may be useful in studies of development and cardiovascular disease.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6.129S6(Cg)-Egln1tm1Kael/J    (Changed: 17-DEC-09 )
Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
 
Donating Investigator William G. Kaelin,   Dana Farber Cancer Institute

Description
These mice possess loxP sites on either side of exons 2 and 3 of the targeted gene. Mice that are homozygous for this floxed allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When crossed with a Cre recombinase-expressing strain, this strain is useful in eliminating tissue-specific expression of the gene (widespread deletion of expression is embryonic lethal). This strain may be useful in studies of development and cardiovascular disease.

For example, when crossed to a strain expressing tamoxifen-inducible Cre recombinase in most tissues (see Stock No. 004682), this mutant mouse strain may be useful in studies of polycythemia and congestive heart failure.

When bred to a strain expressing Cre recombinase in cardiac muscle cells (Tg(Myh6-cre)2182Mds, see Stock No. 011038 for example), this mutant mouse strain may be useful in studies of cardiomyopathy.

Development
An FRT-flanked neomycin resistance cassette was placed in intron 1 of the gene. LoxP sites were introduced just 5' of the cassette and in intron 3. The 129S6/SvEvTac-derived TC1 embryonic stem (ES) cell line was used to create the mutation. A cross with an FVB-actin-flipase strain excised the neomycin cassette leaving floxed exons 2 and 3 (which encode almost the entire catalytic domain). The line was backcrossed five times to C57BL/6 by the donating lab to remove the Cre transgene.

Note: A 27 SNP (single nucleotide polymorphism) panel analysis performed on mutant mice rederived by The Jackson Laboratory revealed 5 loci that were segregating for 129 background alleles on chromosomes 3, 8, 11, 12, and 15.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Egln1
009671   B6.129S6(FVB)-Egln1tm1.1Kael/J
023886   C57BL/6-Egln1tm1.1Fsl/J
View Strains carrying other alleles of Egln1     (2 strains)

Additional Web Information

Introduction to Cre-lox technology

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Erythrocytosis, Familial, 3; ECYT3   (EGLN1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

Egln1tm1Kael/Egln1tm1Kael Tg(CAG-cre/Esr1*)5Amc/0

        involves: 129S6/SvEvTac * C57BL/6 * CBA   (conditional)
  • mortality/aging
  • premature death
    • mutants exposed to tamoxifen at E17.5 and 3 weeks after birth to induce cre expression begin dying suddenly around 10 weeks of age   (MGI Ref ID J:132718)
  • growth/size/body phenotype
  • decreased body size
    • by 10 weeks of age, mutants that are exposed to tamoxifen at E17.5 and 3 weeks after birth, are smaller   (MGI Ref ID J:132718)
  • cardiovascular system phenotype
  • abnormal myocardium layer morphology
    • the space between myocardial fibers is increased in mutants treated with tamoxifen at E17.5 and 3 weeks after birth   (MGI Ref ID J:132718)
    • enlarged myocardial fiber
      • cardiomyocytes of mutants treated with tamoxifen at E17.5 and 3 weeks after birth are enlarged, with occasional large nuclei   (MGI Ref ID J:132718)
  • cardiac ischemia
    • mutants treated with tamoxifen at E17.5 and 3 weeks after birth exhibit increased contraction band necrosis indicative of early cardiac ischemia   (MGI Ref ID J:132718)
  • dilated cardiomyopathy
    • mutants treated with tamoxifen at E17.5 and 3 weeks after birth consistently exhibit dilated cardiomyopathy   (MGI Ref ID J:132718)
  • hemorrhage
    • retroperitoneal hemorrhage is observed by 10 weeks of age in mutants exposed to tamoxifen at E17.5 and 3 weeks after birth   (MGI Ref ID J:132718)
  • vasculature congestion
    • 8- to 10-week old mutants treated with tamoxifen at E17.5 and 3 weeks after birth exhibit venous congestion   (MGI Ref ID J:132718)
  • hematopoietic system phenotype
  • polycythemia
    • mutants treated with tamoxifen at E17.5 and 3 weeks after birth show profound increases in red blood cell production associated with increased serum erythropoietin levels   (MGI Ref ID J:132718)
  • muscle phenotype
  • dilated cardiomyopathy
    • mutants treated with tamoxifen at E17.5 and 3 weeks after birth consistently exhibit dilated cardiomyopathy   (MGI Ref ID J:132718)
  • enlarged myocardial fiber
    • cardiomyocytes of mutants treated with tamoxifen at E17.5 and 3 weeks after birth are enlarged, with occasional large nuclei   (MGI Ref ID J:132718)
  • integument phenotype
  • reddish skin
    • by 10 weeks of age, mutants that are exposed to tamoxifen at E17.5 and 3 weeks after birth are erythematous and begin dying suddenly   (MGI Ref ID J:132718)
  • homeostasis/metabolism phenotype
  • increased circulating erythropoietin level
    • mutants treated with tamoxifen at E17.5 and 3 weeks after birth show profound increases in red blood cell production associated with increased serum erythropoietin levels   (MGI Ref ID J:132718)

Egln1tm1Kael/Egln1tm1Kael Tg(Myh6-cre)2182Mds/0

        involves: 129S6/SvEvTac * FVB/N   (conditional)
  • cardiovascular system phenotype
  • abnormal heart left ventricle morphology
    • following thoracic aorta constriction, mice exhibit increased left ventricular end-diastolic dimension compared with control mice   (MGI Ref ID J:179490)
    • aged mice exhibit left ventricular posterior wall thickness compared with control mice   (MGI Ref ID J:179490)
  • cardiac interstitial fibrosis
    • following thoracic aorta constriction   (MGI Ref ID J:179490)
  • decreased ventricle muscle contractility
    • following thoracic aorta constriction or left anterior descending artery and in aged mice   (MGI Ref ID J:179490)
  • enlarged heart
    • following thoracic aorta constriction   (MGI Ref ID J:179490)
    • increased heart weight
      • following thoracic aorta constriction   (MGI Ref ID J:179490)
  • enlarged myocardial fiber
  • increased angiogenesis   (MGI Ref ID J:179490)
  • increased response of heart to induced stress
    • following thoracic aorta constriction, mice exhibit increased cardiac hypertrophy, reduced cardiac function (decreased fractional shortening and increased left ventricular end-diastolic dimension and left ventricular posterior wall thickness), increased heart weight, cardiac interstitial fibrosis, enlarge myocardial fiber, and congestion in the lung and liver compared with wild-type mice   (MGI Ref ID J:179490)
  • liver vascular congestion
    • following thoracic aorta constriction, liver wet weight to dry weight is increased compared to in wild-type mice   (MGI Ref ID J:179490)
  • myocardial fiber degeneration
    • following thoracic aorta constriction, mice exhibit myocyte dropout with replacement and interstitial fibrosis   (MGI Ref ID J:179490)
  • pulmonary vascular congestion
    • following thoracic aorta constriction, lung wet weight to dry weight is increased compared to in wild-type mice   (MGI Ref ID J:179490)
  • muscle phenotype
  • decreased ventricle muscle contractility
    • following thoracic aorta constriction or left anterior descending artery and in aged mice   (MGI Ref ID J:179490)
  • enlarged myocardial fiber
  • myocardial fiber degeneration
    • following thoracic aorta constriction, mice exhibit myocyte dropout with replacement and interstitial fibrosis   (MGI Ref ID J:179490)
  • homeostasis/metabolism phenotype
  • increased response of heart to induced stress
    • following thoracic aorta constriction, mice exhibit increased cardiac hypertrophy, reduced cardiac function (decreased fractional shortening and increased left ventricular end-diastolic dimension and left ventricular posterior wall thickness), increased heart weight, cardiac interstitial fibrosis, enlarge myocardial fiber, and congestion in the lung and liver compared with wild-type mice   (MGI Ref ID J:179490)
  • liver/biliary system phenotype
  • liver vascular congestion
    • following thoracic aorta constriction, liver wet weight to dry weight is increased compared to in wild-type mice   (MGI Ref ID J:179490)
  • respiratory system phenotype
  • pulmonary vascular congestion
    • following thoracic aorta constriction, lung wet weight to dry weight is increased compared to in wild-type mice   (MGI Ref ID J:179490)
  • cellular phenotype
  • decreased mitochondria number
    • myocytes exhibit mitochondrial loss   (MGI Ref ID J:179490)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Research Tools
Cardiovascular Research
      Cre-lox System
Cre-lox System
      loxP-flanked Sequences
Developmental Biology Research
      Cre-lox System

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Egln1tm1Kael
Allele Name targeted mutation 1, William G Kaelin
Allele Type Targeted (Conditional ready (e.g. floxed), No functional change)
Common Name(s) PHD2 flox; Phd2F;
Mutation Made By Yoji Andrew Minamishima,   Dana-Farber Cancer Institute (DFCI)
Strain of Origin129S6/SvEvTac
ES Cell Line NameTC1/TC-1
ES Cell Line Strain129S6/SvEvTac
Gene Symbol and Name Egln1, egl-9 family hypoxia-inducible factor 1
Chromosome 8
Gene Common Name(s) open reading frame 13; AI503754; C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; Hif-p4h-2; ORF13; PHD-2; PHD2; SM-20; SM20; ZMYND6; expressed sequence AI503754; open reading frame 13;
Molecular Note An frt-flanked neo cassette with a 5' loxP site was inserted upstream of exon 2 and an additional loxP site was inserted downstream of exon 3. Germ-line, flp-mediated recombination was used to remove the neo cassette leaving exon 2 and 3 floxed. [MGI Ref ID J:132718]

Genotyping

Genotyping Information

Genotyping Protocols

Egln1tm1Kael, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Minamishima YA; Moslehi J; Bardeesy N; Cullen D; Bronson RT; Kaelin WG Jr. 2008. Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure. Blood 111(6):3236-44. [PubMed: 18096761]  [MGI Ref ID J:132718]

Additional References

Egln1tm1Kael related

Minamishima YA; Kaelin WG Jr. 2010. Reactivation of hepatic EPO synthesis in mice after PHD loss. Science 329(5990):407. [PubMed: 20651146]  [MGI Ref ID J:162614]

Minamishima YA; Moslehi J; Padera RF; Bronson RT; Liao R; Kaelin WG Jr. 2009. A feedback loop involving the Phd3 prolyl hydroxylase tunes the mammalian hypoxic response in vivo. Mol Cell Biol 29(21):5729-41. [PubMed: 19720742]  [MGI Ref ID J:153985]

Moslehi J; Minamishima YA; Shi J; Neuberg D; Charytan DM; Padera RF; Signoretti S; Liao R; Kaelin WG Jr. 2010. Loss of hypoxia-inducible factor prolyl hydroxylase activity in cardiomyocytes phenocopies ischemic cardiomyopathy. Circulation 122(10):1004-16. [PubMed: 20733101]  [MGI Ref ID J:179490]

Querbes W; Bogorad RL; Moslehi J; Wong J; Chan AY; Bulgakova E; Kuchimanchi S; Akinc A; Fitzgerald K; Koteliansky V; Kaelin WG Jr. 2012. Treatment of erythropoietin deficiency in mice with systemically administered siRNA. Blood 120(9):1916-22. [PubMed: 22611156]  [MGI Ref ID J:189129]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryWhen maintained as a live colony, homozygotes may be bred.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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