Symbol
Name
ID
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Synonyms
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Ad3h, presenilin-1, PS-1, PS1, S182
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Genetic Map
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Sequence Map
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Mammalian homology
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Sequences
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All sequences(29)
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Alleles and phenotypes
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All alleles(26) :
Targeted, knock-out(8)
Targeted, other(8)
Gene trapped(10)
| Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. |
Associated Human Diseases (5)
Alleles Annotated to Human Diseases (10)
Phenotype Images (1)
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Polymorphisms
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SNPs within 2kb(249 from dbSNP Build 128)
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Gene Ontology (GO) classifications
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Expression
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Literature Summary: (21 records)
Data Summary:
Assays (6)
Results (62)
Tissues (55)
Images (9)
Theiler Stages: 21,22,23,25,28
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Assay Type |
Assays |
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Results |
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Western blot |
2 |
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6 |
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RT-PCR |
2 |
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47 |
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RNA in situ |
1 |
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4 |
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Immunohistochemistry |
1 |
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5 |
cDNA source data(134)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular reagents
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All nucleic(139)
Genomic(1)
cDNA(135)
Primer pair(2)
Other(1)
Antibodies(2)
Microarray probesets(4)
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Other database links
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Protein domains
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| InterPro ID |
Description |
| IPR001108 |
Peptidase A22A, presenilin |
| IPR002031 |
Peptidase A22A, presenilin 1 |
| IPR006639 |
Peptidase A22, presenilin signal peptide |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:37100
Sherrington R et al.,
"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]"
Nature 1995 Jun 29;375(6534):754-60
(Latest)
J:154114
Ferjentsik Z et al.,
"Notch is a critical component of the mouse somitogenesis oscillator and is essential for the formation of the somites."
PLoS Genet 2009 Sep;5(9):e1000662
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All references(256)
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Other accession IDs
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MGD-MRK-35912, MGI:107441
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