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Strain Name:

B6.129P-Psen2tm1Bdes/J

Stock Number:

005617

Availability:

Repository-Cryopreserved


General Terms and Conditions

Genes & Alleles   Psen2;   Psen2tm1Bdes;


Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Targeted Mutation
Specieslaboratory mouse
Donating Investigator Bart de Strooper,   KU Leuven and VIB

Strain Description
Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern or Western blot analysis. Alveolar wall thickening, fibrotic deposits, hemorahages in alveoli and airways are observed by histological analysis of lung tissue from homozygotes 3 months of age and older. This mutant mouse strain may be useful in studies of Alzheimer's disease.

Strain Development
A targeting vector containing hygromycin resistance gene driven by the phosphoglycerate kinase promoter was used to disrupt exon 5 and introducing a frame shift between exons 4 and 6. The construct was electroporated into 129P2/OlaHsd derived E14 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice, and then backcrossed to C57BL/6J for 14 generations.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Psen2tm1Bdes/Psen2tm1Bdes

        involves: 129P2/OlaHsd * C57BL/6J
  • respiratory system phenotype
  • abnormal lung morphology (MGI Ref ID J:58118)
    • apoptosis is evident in lung parenchyma
    • abnormal bronchus morphology (MGI Ref ID J:58118)
      • apoptosis is evident within bronchial epithelium
    • abnormal lung vasculature (MGI Ref ID J:58118)
      • apoptosis is evident within the vascular endothelium
    • abnormal respiratory alveoli morphology (MGI Ref ID J:58118)
      • from 3 months of age, show a thickening of alveolar walls, with broad strands of fibrotic tissues
    • pulmonary fibrosis (MGI Ref ID J:58118)
      • develop mild pulmonary fibrosis with age
  • lung hemorrhage (MGI Ref ID J:58118)
    • at 3 and 6 months of age, observe hemorrhages within large groups of alveoli and their adjoining airways
  • cardiovascular system phenotype
  • abnormal lung vasculature (MGI Ref ID J:58118)
    • apoptosis is evident within the vascular endothelium
  • lung hemorrhage (MGI Ref ID J:58118)
    • at 3 and 6 months of age, observe hemorrhages within large groups of alveoli and their adjoining airways
  • limbs/digits/tail phenotype
  • *normal* limbs/digits/tail phenotype (MGI Ref ID J:58118)
    • surprisingly, no alterations in digit formation are seen
  • nervous system phenotype
  • *normal* nervous system phenotype (MGI Ref ID J:58118)
    • surprisingly, no alterations in brain anatomy are seen

Gene & Allele Details

Allele Symbol Psen2tm1Bdes
Allele Name targeted mutation 1, Bart de Strooper
Common Name(s) PS2-;
Mutation Made By Bart de Strooper,   KU Leuven and VIB
Strain of Origin129P2/OlaHsd
ES Cell Line NameE14
ES Cell Line Strain129P2/OlaHsd
Gene Symbol and Name Psen2, presenilin 2
Chromosome 1
Gene Common Name(s) AD3L; AD4; AI266870; ALG-3; Ad4h; PS-2; PS2; STM2; alzheimer disease 4 homolog; expressed sequence AI266870;
Molecular Note Replacement of exon 5 by a hygromycin cassette resulted in a frame shift between exons 4 and 6. Northern blots of RNA from brain, kidney, lung, heart, and liver of homozygous mutant mice confirmed the null mutation of the Psen2 gene. Western blots of the same tissues from homozygous mutant mice using antibodies specific for both the N- and C-termini of the Psen2 protein confirmed the mutation. [MGI Ref ID J:58118]

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Genotyping Protocols

Psen2tm1Bdes

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice are bred as homozygotes.

Additional Web Information

Congenic Nomenclature
Visit the Alzheimer's Disease Mouse Model Resource site for helpful information on Alzheimer's Disease and research resources.

Research Applications

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

Cardiovascular Research
Vascular Defects

Mouse/Human Gene Homologs
Alzheimer's

Neurobiology Research
Alzheimer's Disease (Presenilin mutants)
Alzheimer's Disease

Psen2tm1Bdes related

Neurobiology Research
Alzheimer's Disease

References

Selected Reference(s)

Herreman A; Hartmann D; Annaert W; Saftig P; Craessaerts K; Serneels L; Umans L; Schrijvers V; Checler F; Vanderstichele H; Baekelandt V; Dressel R; Cupers P; Huylebroeck D; Zwijsen A; Van Leuven F; De Strooper B. 1999. Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A 96(21):11872-7. [PubMed: 10518543]  [MGI Ref ID J:58118]

Additional References

Price and Supply Information

Strain Name: B6.129P-Psen2tm1Bdes/J
Stock Number: 005617

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryopreserved Embryos
This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page.
Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Induced Mutant Resource Colony collection.

LicensingSee General Terms and Conditions below for Licensing and Use Restrictions  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

The Jackson Laboratory's Genotype Promise

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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