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(27) :
Targeted, knock-out(8)
Targeted, other(8)
Gene trapped(11)
| 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
| |
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 |
|
4 |
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Immunohistochemistry |
1 |
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5 |
cDNA source data(135)
External Resources:
Allen Brain Atlas
GENSAT
GEO
ArrayExpress
|
Molecular
reagents
|
All nucleic(141)
Genomic(1)
cDNA(136)
Primer pair(3)
Other(1)
Antibodies(2)
Microarray probesets(4)
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Other database
links
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Protein
domains
|
| 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
|
(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:155627
Genethliou N et al.,
"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 2009 Dec 25;390(4):1114-20
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All references(260)
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Other
accession IDs
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MGD-MRK-35912, MGI:107441
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Analysis Tools
MGI BioMart
