Strain Name:

C57BL/6-Egln1tm1.1Fsl/J

Stock Number:

023886

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Availability:

Cryopreserved - Ready for recovery

Use Restrictions Apply, see Terms of Use
These P294R knockin mice develop erythrocytosis and are useful in studies of erythropoiesis, the Prolyl Hydroxylase Domain protein/Hypoxia Inducible Factor pathway and physiological adaptation to hypoxic conditions.

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

Type Coisogenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Mating SystemWild-type x Heterozygote         (Female x Male)   22-JAN-14
Mating SystemHeterozygote x Wild-type         (Female x Male)   22-JAN-14
Specieslaboratory mouse
 
Donating Investigator Frank S. Lee,   University of Pennsylvania School of Med

Description
The Egln1 gene encodes an oxygen sensing enzyme that regulates the activity of hypoxia inducible transcription factors (or HIF proteins) in normoxic and hypoxic conditions, enabling aerobic organisms to adapt to hypoxia. A nucleotide substitution mutation in the human gene, P317R, causes reduced enzymatic activity and has been linked to erythrocytosis. The mouse P294R mutation corresponds to the human P317R. Mice that are heterozygous for the P294R nucleotide substitution mutation are viable and fertile, but develop erythrocytosis. The mutation was confirmed by PCR analysis. Heterozygous mice develop erythrocytosis with increased spleen mass, increased red cell mass (increased hematocrit, hemoglobin, and red blood cell counts) but normal white blood cell and platelets numbers, and inappropriately normal serum levels of erythropoietin. Homozygotes are not viable.

Development
The C57BL/6 bacterial artificial chromosome (BAC) clone RP23-356I16 containing was modified by a minitargeting vector to insert the P249R nucleotide substitution. DNA from the modified BAC clone was used as the source for a targeting vector that also contained a loxP site flanked NEO cassette. This targeting vector was used to insert the P294R knockin mutation into exon 2. The construct was electroporated into C57BL/6 derived embryonic stem (ES) cells (Caliper Life Sciences). Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting male chimeric animals were bred to C57BL/6 mice. The mice were then bred to C57BL/6-Gt(ROSA)26Sortm16(Cre)Arte mice to remove the selection cassette. Additional crossing with C57BL/6 mice was completed to breed out the Gt(ROSA)26Sortm16(Cre)Arte allele. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Egln1
009671   B6.129S6(FVB)-Egln1tm1.1Kael/J
009672   STOCK Egln1tm1Kael/J
View Strains carrying other alleles of Egln1     (2 strains)

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

Egln1tm1.1Fsl/Egln1+

        C57BL/6-Egln1tm1.1Fsl
  • hematopoietic system phenotype
  • increased hematocrit   (MGI Ref ID J:202737)
  • increased hemoglobin content   (MGI Ref ID J:202737)
  • increased spleen weight
    • spleen weight is increased as compared to wild-type   (MGI Ref ID J:202737)
  • polycythemia
    • mice exhibit erythrocytosis, however, erythropoietin levels are not increased   (MGI Ref ID J:202737)
  • immune system phenotype
  • increased spleen weight
    • spleen weight is increased as compared to wild-type   (MGI Ref ID J:202737)
  • respiratory system phenotype
  • increased pulmonary ventilation
    • under normoxia conditions   (MGI Ref ID J:202737)
  • increased tidal volume
    • under normoxia conditions   (MGI Ref ID J:202737)

Egln1tm1.1Fsl/Egln1tm1.1Fsl

        C57BL/6-Egln1tm1.1Fsl
  • mortality/aging
  • complete prenatal lethality
    • heterozygote x heterozygote crosses fail to produce homozygous progeny   (MGI Ref ID J:202737)
View Research Applications

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

Developmental Biology Research
Internal/Organ Defects
      hematopoietic defects
Lymphoid Tissue Defects
      hematopoietic defects

Hematological Research
Hematopoietic Defects

Research Tools
Hematological Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Egln1tm1.1Fsl
Allele Name targeted mutation 1.1, Frank Lee
Allele Type Targeted (knock-in)
Common Name(s) Phd2P294R;
Strain of OriginC57BL/6
Gene Symbol and Name Egln1, EGL nine homolog 1 (C. elegans)
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 The C57BL/6 bacterial artificial chromosome (BAC) clone RP23-356I16 containing genomic DNA from exons 2-4 of the Egln1 gene was modified to insert a P249R nucleotide substitution in exon 2 using a minitargeting vector. The final targeting vector contained a 6.9 kb 5' arm containing exon 2 with the P249R nucleotide substitution, a loxP-flanked neomycin selection cassette and a 4.1 kb 3' arm. The presence of the P249R mutation was confirmed by sequencing. The neomycin resistance cassette was removed by cre-mediated recombination using mice carrying the Gt(ROSA)26Sortm16(cre)Arte allele. [MGI Ref ID J:202737]

Genotyping

Genotyping Information

Genotyping Protocols

Egln1tm1.1Fsl, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Arsenault PR; Pei F; Lee R; Kerestes H; Percy MJ; Keith B; Simon MC; Lappin TR; Khurana TS; Lee FS. 2013. A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism. J Biol Chem 288(47):33571-84. [PubMed: 24121508]  [MGI Ref ID J:202737]

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 maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes are not viable.
Mating SystemWild-type x Heterozygote         (Female x Male)   22-JAN-14
Heterozygote x Wild-type         (Female x Male)   22-JAN-14

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* $2085.00
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 11 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* $2710.50
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 11 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
   Wild-type from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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