ENSMUSG00000010609


Mus musculus

Features
Gene ID: ENSMUSG00000010609
  
Biological name :Psen2
  
Synonyms : presenilin 2 / Psen2
  
Possible biological names infered from orthology : P49810
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H4
Gene start: 180227004
Gene end: 180263438
  
Corresponding Affymetrix probe sets: 10360648 (MoGene1.0st)   1425869_a_at (Mouse Genome 430 2.0 Array)   1431542_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000106735
Ensembl peptide - ENSMUSP00000120216
Ensembl peptide - ENSMUSP00000106737
Ensembl peptide - ENSMUSP00000010753
Ensembl peptide - ENSMUSP00000106733
Ensembl peptide - ENSMUSP00000106734
NCBI entrez gene - 19165     See in Manteia.
MGI - MGI:109284
RefSeq - XM_006496712
RefSeq - XM_011238776
RefSeq - NM_001128605
RefSeq - NM_011183
RefSeq Peptide - NP_001122077
RefSeq Peptide - NP_035313
swissprot - Q3U4P5
swissprot - D3Z0X1
swissprot - A0A0R4J1F2
Ensembl - ENSMUSG00000010609
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 psen2ENSDARG00000015540Danio rerio
 PSEN2ENSGALG00000009073Gallus gallus
 PSEN2ENSG00000143801Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Psen1 / P49769 / presenilin 1 / P49768*ENSMUSG0000001996963


Protein motifs (from Interpro)
Interpro ID Name
 IPR001108  Peptidase A22A, presenilin
 IPR001493  Peptidase A22A, presenilin 2
 IPR006639  Presenilin/signal peptide peptidase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042987 amyloid precursor protein catabolic process IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0000776 kinetochore IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005637 nuclear inner membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0004190 aspartic-type endopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042500 aspartic endopeptidase activity, intramembrane cleaving IEA


Pathways (from Reactome)
Pathway description
Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
EPH-ephrin mediated repulsion of cells
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000218 increased WBC count "greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
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Allelic Composition: Nfatc2tm1Glm/Nfatc2tm1Glm,Nfatc3tm1Glm/Nfatc3tm1Glm,Nfatc4tm1Grc/Nfatc4tm1Grc
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0000417 short hair "reduced average length of the hairs" [J:64948]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001182 lung hemorrhage "bleeding in the respiratory organs" [J:66345]
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Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001191 abnormal skin condition "anomalous state of the skin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgfr1tm1Jpa/Fgfr1tm1Jpa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001192 scaly skin "skin covered with shedding scales or flakes" [J:65146]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0001194 dermatitis "inflammation of the skin" [J:65146]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001200 thick skin "greater depth of skin " [J:47225]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0001209 spontaneous skin ulceration "unpredictable appearance of skin lesions, usually with inflammation" [J:65302]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgfr1tm1Jpa/Fgfr1tm1Jpa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Nfatc2tm1Glm/Nfatc2tm1Glm,Nfatc3tm1Glm/Nfatc3tm1Glm,Nfatc4tm1Grc/Nfatc4tm1Grc
Genetic Background: involves: 129S2/SvPas

 MP:0001313 increased incidence of corneal inflammation "greater than average and persistent occurrence of corneal irritation" [J:4606]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001473 reduced long term potentiation "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Psen1tm4.1Shn/Psen1+,Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * DBA/2

 MP:0001648 abnormal apoptosis "excessive or absent cell death in a particular tissue or cell type" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:25248]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0001690 failure of somite differentiation "disorganized or absent somite tissue or somite pattern in development" [J:25248]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001844 autoimmune response "condition in which cells and/or antibodies arise from and are directed against one s own tissues " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001846 increased inflammatory response "greater than expected response to injury, infection, or insult " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgfr1tm1Jpa/Fgfr1tm1Jpa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0001900 impaired synaptic plasticity "decreased or inability of the nervous system to change its reactivity as a result of successive activations " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Psen1tm4.1Shn/Psen1+,Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * DBA/2

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nfatc2tm1Glm/Nfatc2tm1Glm,Nfatc3tm1Glm/Nfatc3tm1Glm,Nfatc4tm1Grc/Nfatc4tm1Grc
Genetic Background: involves: 129S2/SvPas

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nfatc2tm1Glm/Nfatc2tm1Glm,Nfatc3tm1Glm/Nfatc3tm1Glm,Nfatc4tm1Grc/Nfatc4tm1Grc
Genetic Background: involves: 129S2/SvPas

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Psen2tm1Haa/Psen2tm1Haa
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002188 small heart "reduced size of the heart relative to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:67044]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0002461 increased circulating immunoglobulin concentration "greater than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0002499 chronic inflammation "persistent inflammatory response, often caused by persistent infection or during an autoimmune response" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Fgfr1tm1Jpa/Fgfr1tm1Jpa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0002743 glomerulonephritis "glomerular disease characterized by diffuse inflammatory reaction that is not the acute response to infection of the kidneys" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0002824 abnormal chorioallantoic fusion "abnormal process of or failure of the formation of the membrane that forms the fetal portion of the placenta; derived from the fusion of the chorion and the allantois" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002916 increased synaptic depression "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Psen1tm4.1Shn/Psen1+,Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * DBA/2

 MP:0002920 reduced paired-pulse facilitation "decrease in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Psen1tm4.1Shn/Psen1+,Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * DBA/2

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Bdes/Psen1tm1Bdes,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003413 hair follicle degeneration "a retrogressive impairment of function or destruction of the hair follicle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:94517]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0003414 epidermal cyst "a cyst formed of a mass of epidermal cells which is present beneath the epidermis; the wall is lined with stratified squamous epithelium and exhibits increased/abnormal keratinization" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0003864 abnormal midbrain development "anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0003944 abnormal T cell subpopulation ratio "deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples" [mberry:Melissa Berry, Genetics Resources Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1tm1Bdes,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004073 caudal body truncation "caudal part of body truncated with anterior portion relatively normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1tm1Bdes,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Bdes/Psen1tm1Bdes,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0004546 esophagus hyperplasia "overdevelopment or increased size, usually due an increased number of cells of the esophagus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0004771 increased anti-single stranded DNA antibody level "increase in the level of antibodies that recognize single stranded DNA" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0004947 skin inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0005161 hematuria "presence of blood in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78193]
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Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0005350 increased susceptibility to autoimmune disorders "greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0006000 abnormal corneal epithelium "malformation in the one or more of the layers of epithelial cells covering the front of the cornea" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0006050 pulmonary fibrosis "formation of fibrous tissue within the lung often resulting from inflammation or injury " [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
Show

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0006344 small second branchial arch "reduced size of the second branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0008029 abnormal paraxial mesoderm "failure or abnormality in the formation of the mesoderm lying at either side of the midline embryonic notochord; on segmentation, paraxial mesoderm forms the paired somites" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0008286 abnormal hippocampus molecular cell layer 
Show

Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0008414 abnormal spatial reference memory "anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to naviagate or perform other behavior using such locational cues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm4.1Shn/Psen1+,Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * DBA/2

 MP:0008428 abnormal spatial working memory "anomaly in the ability to spontaneously process spatial location information in order to naviagate or perform other behavior using such locational cues, without previous encounters or training at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bicc1m1006Lja/Bicc1m1006Lja
Genetic Background: C57BL/6J-Bicc1m1006Lja

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0008536 enlarged third ventricle "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Jzt/Psen1tm1Jzt,Psen2tm1Ber/Psen2tm1Ber,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm4.1Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Camk2a-cre)1Shn/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

 MP:0010138 arteritis "inflammation of the walls of arteries, usually as a result of infection or auto-immune response" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psen1tm1Bdes/Psen1+,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd

 MP:0010685 abnormal hair follicle inner root sheath morphology "any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle s layer, Huxley s layer and the inner root sheath cuticle" [PMID:19211055]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

 MP:0010903 abnormal pulmonary alveolus wall morphology 
Show

Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Psen1tm1Bdes/Psen1tm1Bdes,Psen2tm1Bdes/Psen2tm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Psen1tm1Pcw/Psen1+,Psen2tm1Ber/Psen2tm1Ber
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0011141 increased lung endothelial cell apoptosis "acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature to undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Psen1tm1Shn/Psen1tm1Shn
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0013380 absent sebocyte "failure of formation or loss of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation" [MGI:Anna, PMID:19944183]
Show

Allelic Composition: Psen1tm2Shn/Psen1tm2Shn,Psen2tm1Haa/Psen2tm1Haa,Tg(Msx2-cre)5Rem/0
Genetic Background: involves: 129S4/SvJae

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000015750 Aph1a / Q8BVF7 / Gamma-secretase subunit APH-1A / Q96BI3* / aph-1 homolog A, gamma-secretase subunit*  / complex
 ENSMUSG00000027164 Traf6 / P70196 / TNF receptor-associated factor 6 / Q9Y4K3*  / reaction
 ENSMUSG00000028549 Q9CQ82 / Itgb3bp / integrin beta 3 binding protein (beta3-endonexin) / Q13352* / integrin subunit beta 3 binding protein*  / reaction
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / reaction
 ENSMUSG00000003458 Ncstn / P57716 / Nicastrin / Q92542*  / complex
 ENSMUSG00000062209 Erbb4 / Q61527 / Receptor tyrosine-protein kinase erbB-4 ERBB4 intracellular domain / Q15303* / erb-b2 receptor tyrosine kinase 4*  / reaction
 ENSMUSG00000000120 Ngfr / nerve growth factor receptor / P08138*  / reaction
 ENSMUSG00000038146 Notch3 / Q61982 / Neurogenic locus notch homolog protein 3 Notch 3 extracellular truncation Notch 3 intracellular domain / Q9UM47*  / reaction
 ENSMUSG00000010609 Psen2 / presenilin 2 / P49810*  / complex
 ENSMUSG00000032375 Aph1b / Q8C7N7 / Gamma-secretase subunit APH-1B / Q8WW43* / aph-1 homolog B, gamma-secretase subunit*  / complex
 ENSMUSG00000036835 Psenen / Q9CQR7 / Gamma-secretase subunit PEN-2 / Q9NZ42* / AD000671.1* / presenilin enhancer gamma-secretase subunit*  / complex
 ENSMUSG00000053040 Aph1c / Q9DCZ9 / Putative gamma-secretase subunit APH-1C / APH1B* / Q8WW43* / aph-1 homolog B, gamma-secretase subunit*  / complex






 

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