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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- 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; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N34+F0pN1 Donating Investigator Bruce Lamb, The Cleveland Clinic Foundation Description
Mice hemizygous for this "H163R mutant PSEN1 YAC" transgene are viable and fertile, while the donating investigator reports that homozygous mice are non-viable. Semi-quantitative RT-PCR of multiple tissues shows expression of H163R mutant human PSEN1 at levels comparable to that of wildtype mouse PSEN1 (50–70%). In contrast to other PSEN1 transgenic models, tissues from this strain express alternatively spliced human PSEN1 transcripts encoding PSEN1 protein (with or without the tetrapeptide VRSQ) and accumulated an 18-kDa PSEN1 C-terminal fragment as shown by western blots, thus expressing a wide spectrum of different human PSEN1 mRNAs and proteins. When crossed to other FAD transgenic strains (for example Stock No. 005300), this transgene is associated with elevated levels of the 42 amino acid form of amyloid-beta (1–42) in both brain and plasma. These mice may be useful in studying neurological disorders such as Familial Alzheimer’s Disease and Down syndrome.Development
A 1000 kb YAC transgene (788H12) containing the entire human presenilin-1 (PSEN or PS-1) gene was altered to include the H163R PSEN1 Familial Alzheimer's Disease (FAD) mutation. The transgene also included approximately 550 kb of upstream and 350 kb of downstream flanking sequences. This construct was injected into 129S4/SvJae-derived J1 embryonic stem (ES) cells. Founder animals (line G9) were backcrossed to C57BL/6 for at least 33 generations.
Control Information
| Control | ||
|---|---|---|
| Noncarrier | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of PSEN1
View Strains carrying other alleles of PSEN1 (6 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
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Tg(PSEN1H163R)G9Btla/0
involves: 129S4/SvJae
- nervous system phenotype
- amyloid beta deposits (MGI Ref ID J:58050)
- lower levels of Abeta1-42 amyloid peptide accumulate compared to double transgenic mice
- other phenotype
- amyloid beta deposits (MGI Ref ID J:58050)
- lower levels of Abeta1-42 amyloid peptide accumulate compared to double transgenic mice
This mouse can be used to support research in many areas including:
Mouse/Human Gene Homologs
Alzheimer's
Neurobiology Research
Alzheimer's Disease
Presenilin mutants
Neurodegeneration
Research Tools
Neurobiology Research
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Tg(PSEN1H163R)G9Btla | ||
|---|---|---|---|
| Allele Name | transgene insertion G9, Bruce Lamb | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | (H163R) PS-1 YAC; H163R mutant PS-1 YAC; H163R mutant PS-1 YAC transgenic mouse (line G9); PS-1 YAC transgenic line G9; | ||
| Mutation Made By | Bruce Lamb, The Cleveland Clinic Foundation | ||
| Strain of Origin | 129S4/SvJae | ||
| ES Cell Line Name | J1 | ||
| ES Cell Line Strain | 129S4/SvJae | ||
| Expressed Gene | PSEN1, presenilin 1, human | ||
| Promoter | PSEN1, presenilin 1, human | ||
| General Note | The transgene construct was injected into embryonic stem (ES) cells. | ||
| Molecular Note | A 1000 kb YAC transgene (788H12) containing the entire human presenilin-1 gene was altered to include the Familial Alzheimer's Disease- (FAD-) associated histidine-to-arginine substitution at amino acid position 163 (H163R). The transgene also includes approximately 550 kb of upstream and 350 kb of downstream flanking DNA. Semi-quantitative RT-PCR of multiple tissues shows expression of H163R mutant human mRNA at 50-70% of the level of wild-type mouse transcripts. Transgenic tissues express a wide spectrum of human presenilin-1 mRNA and protein species; alternatively spliced human mRNAs encoding presenilin 1, with or without the tetrapeptide VRSQ, are detected, and western blot analysis reveals accumulation of an 18-kDa C-terminal peptide. [MGI Ref ID J:58050] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Tg(PSEN1H163R)G9Btla, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Selected Reference(s)
Lamb BA; Bardel KA; Kulnane LS; Anderson JJ; Holtz G; Wagner SL; Sisodia SS; Hoeger EJ. 1999. Amyloid production and deposition in mutant amyloid precursor protein and presenilin-1 yeast artificial chromosome transgenic mice. Nat Neurosci 2(8):695-7. [PubMed: 10412057] [MGI Ref ID J:58050]
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
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, hemizygous mice are bred to wildtype siblings or to C57BL/6J inbred mice. The donating investigator reports that homozygous mice are non-viable.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Noncarrier | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - 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 and Purchasing Information
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Contact Information
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Terms of Use
Terms of Use
General Terms and Conditions
For Licensing and Use Restrictions view the link(s) below:
- Strain(s) not available to companies or for-profit entities.
Contact information
General inquiries
Contracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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