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- 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 Background Strain C57BL/6 Donating Investigator Jie Shen, Harvard Med Sch/Brigham Women's Hosp Description
Presenilin-1 is the major gene responsible for early-onset familial Alzheimer's disease. Mice that are homozygous null for this gene die within minutes after being born. Externally, mice exhibit shortened tails that curve to the right, thickened necks, loose skin and hind limbs that curve towards the midline. Their weight is 15-20% that of wildtype. Gross skeletal malformations and central nervous system abnormalities are observed. Death presumably results from impaired respiratory mechanics due to ribcage deformities. Histological examination indicates that alveoli are marginally expanded. By embryonic day 9.5, there is a drastic reduction in neural progenitor cells. Later, the brain exhibits hemorrhages and symmetric cerebral cavitation. Cavitation occurs primarily in the ventrolateral region of the ventricular zone in the posterior portion of the brain.Development
A targeting construct containing a neomycin cassette was electroporated into ES cells. The construct was designed to disrupt exons 2 and 3. ES cells were injected into C57BL/6 blastocysts. Resulting animals generate aberrant mRNA splice products, but no protein is detected.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Alzheimer's Disease Models
View Alzheimer's Disease Models (108 strains)
003822 B6;129S-Psen1tm1Shn/J
004193 B6.129-Psen1tm1Mpm/J 007685 B6.129P2-Psen1tm1Vln/J 004807 B6;129-Psen1tm1Mpm Tg(APPSwe,tauP301L)1Lfa/Mmjax 007605 B6;129P-Psen1tm1Vln/J
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
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Alzheimer Disease 3- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Alzheimer Disease; AD
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Acne Inversa, Familial, 3; ACNINV3 (PSEN1)
Cardiomyopathy, Dilated, 1u; CMD1U (PSEN1)
Frontotemporal Dementia; FTD (PSEN1)
Pick Disease of Brain (PSEN1)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Psen1tm1Shn/Psen1tm1Shn
Background Not Specified
- cellular phenotype
- abnormal apoptosis
- at E10 the total number of apoptotic cells and relative percentage of apoptotic cells to progenitor cells in the forebrain-midbrain junction is reduced about 50% compared to littermate controls (MGI Ref ID J:90392)
Psen1tm1Shn/Psen1tm1Shn
involves: 129S7/SvEvBrd * C57BL/6
- mortality/aging
- complete neonatal lethality
- none survive for longer than 30 min after natural birth or C-section (MGI Ref ID J:40365)
- embryogenesis phenotype
- abnormal rostral-caudal axis patterning
- shorter rostro-caudal body axes (MGI Ref ID J:40365)
- abnormal rostral-caudal patterning of the somites
- the segmentation in the caudal region of the somites appears less distinct at E9.5-10.5 (MGI Ref ID J:40365)
- cardiovascular system phenotype
- intracranial hemorrhage
- intracranial hemorrhage with varying degrees of severity and time of onset that can appear as early as E12.5 (MGI Ref ID J:40365)
- craniofacial phenotype
- abnormal occipital bone morphology
- occipital bones are underdeveloped (MGI Ref ID J:40365)
- growth/size phenotype
- abnormal postnatal growth/weight/body size
- thick neck (MGI Ref ID J:40365)
- limbs/digits/tail phenotype
- abnormal hindlimb morphology
- hindlimbs are curved toward the midline (MGI Ref ID J:40365)
- curly tail
- tails are curled toward the right side of the body (MGI Ref ID J:40365)
- kinked tail
- by E12.5, all mutants display a kinked tail (MGI Ref ID J:40365)
- short tail (MGI Ref ID J:40365)
- nervous system phenotype
- abnormal brain morphology
- the brain shows symmetric cavitation in the ventrolateral region of the ventricular zone in the posterior portion of the brain at E17.5 (MGI Ref ID J:40365)
- abnormal cerebral cortex morphology
- abnormal diencephalon morphology
- the ependymal layer and the ventricular zone at the diencephalic sulcus are disrupted (MGI Ref ID J:40365)
- abnormal third ventricle morphology
- the ventricular zone along the mid-portions of the third ventricle is absent in E14.5 mutants (MGI Ref ID J:40365)
- abnormal temporal lobe morphology
- atrophy in the subcortical region of the temporal lobe along the external capsule in the brain (MGI Ref ID J:40365)
- dilated lateral ventricles (MGI Ref ID J:40365)
- small telencephalic vesicles
- smaller at E9.5 (MGI Ref ID J:40365)
- abnormal lateral ganglionic eminence morphology
- abnormal neuron differentiation (MGI Ref ID J:40365)
- decreased neuronal precursor cell number
- the ventricular and subventricular zones in the ventrolateral region show severe loss of neural progenitor cells leading to symmetric cavitation at E17.5 (MGI Ref ID J:40365)
- intracranial hemorrhage
- intracranial hemorrhage with varying degrees of severity and time of onset that can appear as early as E12.5 (MGI Ref ID J:40365)
- neuron degeneration
- region-specific (the ventricular and subventricular zones in the ventrolateral region of the brain and subcortical region of the temporal lobe) symmetric loss of neurons and neural progenitor cells with varying severity at E17.5-18.5 and in neonates (MGI Ref ID J:40365)
- exhibit a progression of neuronal loss from anterior to posterior portions of the cerebral hemispheres (MGI Ref ID J:40365)
- respiratory system phenotype
- abnormal pulmonary alveolus morphology
- the alveoli are poorly expanded, probably due to mechanical difficulties imposed by the malformed ribcage (MGI Ref ID J:40365)
- skeleton phenotype
- abnormal axial skeleton morphology
- abnormal occipital bone morphology
- occipital bones are underdeveloped (MGI Ref ID J:40365)
- abnormal rib morphology
- the posterior rib segments are missing and the existing ribs are underossified and fused (MGI Ref ID J:40365)
- abnormal rib-vertebral column attachment
- the ribs are detached from the vertebral column and are only present in the thoracic region in association with the underossified bones in the vertebral column (MGI Ref ID J:40365)
- decreased rib number
- homozygotes have only 9-11 instead of 13 pairs of ribs (MGI Ref ID J:40365)
- rib fusion
- existing ribs are fused (MGI Ref ID J:40365)
- abnormal spine curvature
- lack the normal cervical and lumbar flexures of the vertebral column (MGI Ref ID J:40365)
- abnormal sternum morphology
- sternum is shorter, thicker and lacks intersternebral cartilage (MGI Ref ID J:40365)
- short sternum (MGI Ref ID J:40365)
- vertebral fusion (MGI Ref ID J:40365)
- abnormal bone ossification
- axial skeleton has about 12 pairs of underossified bones and 3-4 pairs or random ossification centers followed by an unossified and unsegmented cartilaginous mass on the dorsal aspect of the vertebral column (MGI Ref ID J:40365)
- integument phenotype
- loose skin (MGI Ref ID J:40365)
- cellular phenotype
- abnormal neuron differentiation (MGI Ref ID J:40365)
- decreased neuronal precursor cell number
- the ventricular and subventricular zones in the ventrolateral region show severe loss of neural progenitor cells leading to symmetric cavitation at E17.5 (MGI Ref ID J:40365)
This mouse can be used to support research in many areas including:
Psen1tm1Shn relatedNeurobiology Research
Alzheimer's Disease
Presenilin mutants
Developmental Biology Research
Neurodevelopmental Defects
Postnatal Lethality
Homozygous
Skeletal Defects
Mouse/Human Gene Homologs
Alzheimer's
Neurobiology Research
Alzheimer's Disease
Behavioral and Learning Defects
Neurodegeneration
Neurodevelopmental Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Psen1tm1Shn | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Jie Shen | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | PS1-; | ||
| Mutation Made By | Jie Shen, Harvard Med Sch/Brigham Women's Hosp | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt | ||
| ES Cell Line Name | AB2.1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt | ||
| Gene Symbol and Name | Psen1, presenilin 1 | ||
| Chromosome | 12 | ||
| Gene Common Name(s) | AD3; Ad3h; FAD; PS-1; PS1; S182; alzheimer disease 3 homolog; presenilin-1; | ||
| Molecular Note | Exon 3 of the Psen1 gene, encoding the translation initiation codon, was deleted and replaced with a neomycin cassette. Northern blots of brain tissue from homozygous mutant mice showed a small amount of mutant Psen1 mRNA, smaller in size than wild-type Psen1. IP-Western blotting detected no C-terminal protein fragment in homozygous mutant mice. The authors conclude that this mutant is a null allele. [MGI Ref ID J:40365] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Psen1tm1Shn, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Shen J; Bronson RT; Chen DF; Xia W; Selkoe DJ; Tonegawa S. 1997. Skeletal and CNS defects in Presenilin-1-deficient mice. Cell 89(4):629-39. [PubMed: 9160754] [MGI Ref ID J:40365]
Additional References
Psen1tm1Shn relatedCook DG; Li X; Cherry SD; Cantrell AR. 2005. Presenilin 1 deficiency alters the activity of voltage-gated Ca2+ channels in cultured cortical neurons. J Neurophysiol 94(6):4421-9. [PubMed: 16148264] [MGI Ref ID J:116810]
De Gasperi R; Gama Sosa MA; Wen PH; Li J; Perez GM; Curran T; Elder GA. 2008. Cortical development in the presenilin-1 null mutant mouse fails after splitting of the preplate and is not due to a failure of reelin-dependent signaling. Dev Dyn 237(9):2405-14. [PubMed: 18729224] [MGI Ref ID J:138800]
Genethliou N; Panayiotou E; Panayi H; Orford M; Mean R; Lapathitis G; Gill H; Raoof S; De Gasperi R; Elder G; Kessaris N; Richardson WD; Malas S. 2009. SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch. Biochem Biophys Res Commun 390(4):1114-20. [PubMed: 19723505] [MGI Ref ID J:155627]
Greenough MA; Volitakis I; Li QX; Laughton K; Evin G; Ho M; Dalziel AH; Camakaris J; Bush AI. 2011. Presenilins Promote the Cellular Uptake of Copper and Zinc and Maintain Copper Chaperone of SOD1-dependent Copper/Zinc Superoxide Dismutase Activity. J Biol Chem 286(11):9776-86. [PubMed: 21239495] [MGI Ref ID J:170632]
Handler M; Yang X; Shen J. 2000. Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 127(12):2593-606. [PubMed: 10821758] [MGI Ref ID J:62163]
Mastrangelo P; Mathews PM; Chishti MA; Schmidt SD; Gu Y; Yang J; Mazzella MJ; Coomaraswamy J; Horne P; Strome B; Pelly H; Levesque G; Ebeling C; Jiang Y; Nixon RA; Rozmahel R; Fraser PE; St George-Hyslop P; Carlson GA; Westaway D. 2005. Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases. Proc Natl Acad Sci U S A 102(25):8972-7. [PubMed: 15951428] [MGI Ref ID J:99874]
Mizuguchi R; Kriks S; Cordes R; Gossler A; Ma Q; Goulding M. 2006. Ascl1 and Gsh1/2 control inhibitory and excitatory cell fate in spinal sensory interneurons. Nat Neurosci 9(6):770-8. [PubMed: 16715081] [MGI Ref ID J:110261]
Pratt KG; Zhu P; Watari H; Cook DG; Sullivan JM. 2011. A novel role for {gamma}-secretase: selective regulation of spontaneous neurotransmitter release from hippocampal neurons. J Neurosci 31(3):899-906. [PubMed: 21248114] [MGI Ref ID J:168562]
Pratt KG; Zimmerman EC; Cook DG; Sullivan JM. 2011. Presenilin 1 regulates homeostatic synaptic scaling through Akt signaling. Nat Neurosci 14(9):1112-4. [PubMed: 21841774] [MGI Ref ID J:179786]
Saito T; Suemoto T; Brouwers N; Sleegers K; Funamoto S; Mihira N; Matsuba Y; Yamada K; Nilsson P; Takano J; Nishimura M; Iwata N; Van Broeckhoven C; Ihara Y; Saido TC. 2011. Potent amyloidogenicity and pathogenicity of Abeta43. Nat Neurosci 14(8):1023-32. [PubMed: 21725313] [MGI Ref ID J:175901]
Saura CA; Servian-Morilla E; Scholl FG. 2011. Presenilin/gamma-Secretase Regulates Neurexin Processing at Synapses. PLoS One 6(4):e19430. [PubMed: 21559374] [MGI Ref ID J:172347]
Wen PH; De Gasperi R; Gama Sosa MA; Elder GA. 2004. Neural progenitor cells do not differentiate prematurely in presenilin-1 null mutant mice. Neurosci Lett 371(2-3):249-54. [PubMed: 15519767] [MGI Ref ID J:94236]
Wen PH; De Gasperi R; Sosa MA; Rocher AB; Friedrich VL Jr; Hof PR; Elder GA. 2005. Selective expression of presenilin 1 in neural progenitor cells rescues the cerebral hemorrhages and cortical lamination defects in presenilin 1-null mutant mice. Development 132(17):3873-83. [PubMed: 16079160] [MGI Ref ID J:100132]
Yang X; Klein R; Tian X; Cheng HT; Kopan R; Shen J. 2004. Notch activation induces apoptosis in neural progenitor cells through a p53-dependent pathway. Dev Biol 269(1):81-94. [PubMed: 15081359] [MGI Ref ID J:90392]
Yang Y; Cook DG. 2004. Presenilin-1 deficiency impairs glutamate-evoked intracellular calcium responses in neurons. Neuroscience 124(3):501-5. [PubMed: 14980721] [MGI Ref ID J:89996]
Yang Y; Kinney GA; Spain WJ; Breitner JC; Cook DG. 2004. Presenilin-1 and intracellular calcium stores regulate neuronal glutamate uptake. J Neurochem 88(6):1361-72. [PubMed: 15009636] [MGI Ref ID J:107993]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Diet Information LabDiet® 5K52/5K67
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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.
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 |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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.
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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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.
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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
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"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
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