| 
| ||||||||||||||||||
- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
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 Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation ?+N1p (05-FEB-06)
Generation DefinitionsDonating Investigator Bart de Strooper, KU Leuven and VIB 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.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.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Alzheimer's Disease Models
View Alzheimer's Disease Models (108 strains)
Additional Web Information
Visit the Alzheimer's Disease Mouse Model Resource site for helpful information on Alzheimer's Disease and research resources.
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Alzheimer Disease 4 (PSEN2)
Cardiomyopathy, Dilated, 1v; CMD1V (PSEN2)
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 pulmonary alveolus wall morphology
- from 3 months of age, show a thickening of alveolar walls, with broad strands of fibrotic tissues (MGI Ref ID J:58118)
- abnormal respiratory system physiology
- apoptosis is evident in the lung parenchyma, within the vascular endothelium and bronchial epithelium (MGI Ref ID J:58118)
- pulmonary fibrosis
- develop mild pulmonary fibrosis with age (MGI Ref ID J:58118)
- cardiovascular system phenotype
- lung hemorrhage
- at 3 and 6 months of age, observe hemorrhages within large groups of alveoli and their adjoining airways (MGI Ref ID J:58118)
- limbs/digits/tail phenotype
- *normal* limbs/digits/tail phenotype
- surprisingly, no alterations in digit formation are seen (MGI Ref ID J:58118)
- nervous system phenotype
- *normal* nervous system phenotype
- surprisingly, no alterations in brain anatomy are seen (MGI Ref ID J:58118)
- cellular phenotype
- increased lung endothelial cell apoptosis
- apoptosis is evident within the vascular endothelium (MGI Ref ID J:58118)
This mouse can be used to support research in many areas including:
Psen2tm1Bdes relatedCardiovascular Research
Vascular Defects
Mouse/Human Gene Homologs
Alzheimer's
Neurobiology Research
Alzheimer's Disease
Presenilin mutants
Neurobiology Research
Alzheimer's Disease
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Psen2tm1Bdes | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Bart de Strooper | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | PS2-; | ||
| Mutation Made By | Bart de Strooper, KU Leuven and VIB | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14 | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Gene Symbol and Name | Psen2, presenilin 2 | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | AD3L; AD4; AI266870; ALG-3; Ad4h; CMD1V; 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] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Psen2tm1Bdes, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
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
Psen2tm1Bdes relatedArmogida M; Petit A; Vincent B; Scarzello S; da Costa CA; Checler F. 2001. Endogenous beta-amyloid production in presenilin-deficient embryonic mouse fibroblasts. Nat Cell Biol 3(11):1030-3. [PubMed: 11715026] [MGI Ref ID J:92211]
Cras-Meneur C; Li L; Kopan R; Permutt MA. 2009. Presenilins, Notch dose control the fate of pancreatic endocrine progenitors during a narrow developmental window. Genes Dev 23(17):2088-101. [PubMed: 19723764] [MGI Ref ID J:152074]
Ferjentsik Z; Hayashi S; Dale JK; Bessho Y; Herreman A; De Strooper B; del Monte G; de la Pompa JL; Maroto M. 2009. Notch is a critical component of the mouse somitogenesis oscillator and is essential for the formation of the somites. PLoS Genet 5(9):e1000662. [PubMed: 19779553] [MGI Ref ID J:154114]
Hebert SS; Serneels L; Dejaegere T; Horre K; Dabrowski M; Baert V; Annaert W; Hartmann D; De Strooper B. 2004. Coordinated and widespread expression of gamma-secretase in vivo: evidence for size and molecular heterogeneity. Neurobiol Dis 17(2):260-72. [PubMed: 15474363] [MGI Ref ID J:93093]
Huppert SS; Ilagan MX; De Strooper B; Kopan R. 2005. Analysis of Notch Function in Presomitic Mesoderm Suggests a gamma-Secretase-Independent Role for Presenilins in Somite Differentiation. Dev Cell 8(5):677-88. [PubMed: 15866159] [MGI Ref ID J:98438]
Kaufmann MR; Barth S; Konietzko U; Wu B; Egger S; Kunze R; Marti HH; Hick M; Muller U; Camenisch G; Wenger RH. 2013. Dysregulation of hypoxia-inducible factor by presenilin/gamma-secretase loss-of-function mutations. J Neurosci 33(5):1915-26. [PubMed: 23365231] [MGI Ref ID J:193889]
Kim JS; Bareiss S; Kim KK; Tatum R; Han JR; Jin YH; Kim H; Lu Q; Kim K. 2006. Presenilin-1 inhibits delta-catenin-induced cellular branching and promotes delta-catenin processing and turnover. Biochem Biophys Res Commun 351(4):903-8. [PubMed: 17097608] [MGI Ref ID J:116653]
Ong CT; Sedy JR; Murphy KM; Kopan R. 2008. Notch and presenilin regulate cellular expansion and cytokine secretion but cannot instruct Th1/Th2 fate acquisition. PLoS ONE 3(7):e2823. [PubMed: 18665263] [MGI Ref ID J:139496]
Tamboli IY; Prager K; Thal DR; Thelen KM; Dewachter I; Pietrzik CU; St George-Hyslop P; Sisodia SS; De Strooper B; Heneka MT; Filippov MA; Muller U; van Leuven F; Lutjohann D; Walter J. 2008. Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis. J Neurosci 28(46):12097-106. [PubMed: 19005074] [MGI Ref ID J:142399]
Tournoy J; Bossuyt X; Snellinx A; Regent M; Garmyn M; Serneels L; Saftig P; Craessaerts K; De Strooper B; Hartmann D. 2004. Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice. Hum Mol Genet 13(13):1321-31. [PubMed: 15128703] [MGI Ref ID J:91235]
Vetrivel KS; Cheng H; Kim SH; Chen Y; Barnes NY; Parent AT; Sisodia SS; Thinakaran G. 2005. Spatial segregation of gamma-secretase and substrates in distinct membrane domains. J Biol Chem 280(27):25892-900. [PubMed: 15886206] [MGI Ref ID J:100835]
Zhao G; Liu Z; Ilagan MX; Kopan R. 2010. Gamma-secretase composed of PS1/Pen2/Aph1a can cleave notch and amyloid precursor protein in the absence of nicastrin. J Neurosci 30(5):1648-56. [PubMed: 20130175] [MGI Ref ID J:157933]
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 & Husbandry When maintaining a live colony, these mice are bred as homozygotes.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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.
Embryos
Price (US dollars $) Frozen Embryo $1600.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. 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, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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 |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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.
Embryos
Price (US dollars $) Frozen Embryo $2080.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. 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, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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).
|
|
|
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. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
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.Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
Terms of Use
General Terms and Conditions
For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
Contact information
General inquiries regarding Terms of UseContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.