ENSMUSG00000003458


Mus musculus

Features
Gene ID: ENSMUSG00000003458
  
Biological name :Ncstn
  
Synonyms : Ncstn / Nicastrin / P57716
  
Possible biological names infered from orthology : Q92542
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H3
Gene start: 172066013
Gene end: 172082795
  
Corresponding Affymetrix probe sets: 10360205 (MoGene1.0st)   10341845 (MoGene1.0st)   10342505 (MoGene1.0st)   1418570_at (Mouse Genome 430 2.0 Array)   1444532_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120663
Ensembl peptide - ENSMUSP00000003550
Ensembl peptide - ENSMUSP00000119128
NCBI entrez gene - 59287     See in Manteia.
MGI - MGI:1891700
RefSeq - NM_021607
RefSeq - XM_006496952
RefSeq - XM_017321872
RefSeq Peptide - NP_067620
swissprot - D6RCJ2
swissprot - P57716
Ensembl - ENSMUSG00000003458
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01110881.1ENSDARG00000103284Danio rerio
 NCSTNENSGALG00000009147Gallus gallus
 NCSTNENSG00000162736Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR008710  Nicastrin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002262 myeloid cell homeostasis IMP
 biological_processGO:0006509 membrane protein ectodomain proteolysis IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007220 Notch receptor processing IBA
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0034205 amyloid-beta formation IEA
 biological_processGO:0042098 T cell proliferation IMP
 biological_processGO:0042982 amyloid precursor protein metabolic process IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0050435 amyloid-beta metabolic process IMP
 biological_processGO:0050673 epithelial cell proliferation IMP
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0070765 gamma-secretase complex IEA
 molecular_functionGO:0004175 endopeptidase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity 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
Neutrophil degranulation
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: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
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Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA2S*M2)Whsu/Gt(ROSA)26Sor+,Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(tetO-cre)1Jaw/0
Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Upk2-cre,-EGFP)#Akli/0
Genetic Background: involves: 129

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 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: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0001409 increased stereotypic behavior "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, MGI:CLS, J:57125]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0001441 increased grooming behavior "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 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: Ccne2tm1Pisc/Ccne2tm1Pisc
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002026 leukemia "progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18542]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 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: Ldlrtm1Her/Ldlrtm1Her,Lrp1tm2Her/Lrp1tm2Her,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL

 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: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003241 loss of cortex neurons "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003425 abnormal optic vesicle formation "anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003587 ureter obstruction "any impediment, blockage, or reversal of the normal flow of the urine towards the bladder" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA2S*M2)Whsu/Gt(ROSA)26Sor+,Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(tetO-cre)1Jaw/0
Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Upk2-cre,-EGFP)#Akli/0
Genetic Background: involves: 129

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0004808 abnormal hematopoietic stem cell morphology "any structural anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0004809 increased hematopoietic stem cell number "greater cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0004998 decreased CNS synapse formation "a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006410 abnormal common myeloid progenitor cell morphology "anomaly in the structure of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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"]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0008476 increased spleen red pulp amount "increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PhexHyp/PhexHyp
Genetic Background: involves: C3H/HeSnJ * C57BL/6J

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0009333 abnormal splenocyte physiology "any functional anomaly of a cell of the spleen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0009550 urinary bladder carcinoma "a malignant neoplasm of the urinary bladder, arising from epithelial cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA2S*M2)Whsu/Gt(ROSA)26Sor+,Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(tetO-cre)1Jaw/0
Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6

Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tg(Upk2-cre,-EGFP)#Akli/0
Genetic Background: involves: 129

 MP:0009846 abnormal neural crest morphology 
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0010373 myeloid hyperplasia "greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0010639 altered tumor pathology "any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ncstntm1.1Akli/Ncstntm1.1Akli,Tet2tm1.1Iaai/Tet2tm1.1Iaai,Tg(Vav1-cre)1Graf/0
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Ccne2tm1Pisc/Ccne2tm1Pisc
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Ncstntm1.2Sud/Ncstntm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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]
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Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011731 decreased myelin sheath thickness "decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

 MP:0012701 increased embryonic neuroepithelium apoptosis "increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Ncstntm1Rroz/Ncstntm1Rroz
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0013438 dysmyelination "reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin" [MGI:csmith]
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Allelic Composition: Kcne2tm1a(EUCOMM)Wtsi/Kcne2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kcne2tm1a(EUCOMM)Wtsi

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000062209 Erbb4 / Q61527 / Receptor tyrosine-protein kinase erbB-4 ERBB4 intracellular domain / Q15303* / erb-b2 receptor tyrosine kinase 4*  / 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
 ENSMUSG00000036835 Psenen / Q9CQR7 / Gamma-secretase subunit PEN-2 / Q9NZ42* / AD000671.1* / presenilin enhancer gamma-secretase subunit*  / complex
 ENSMUSG00000026923 Notch1 / Q01705 / Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain / P46531*  / reaction
 ENSMUSG00000019969 Psen1 / P49769 / presenilin 1 / P49768*  / complex
 ENSMUSG00000000120 Ngfr / nerve growth factor receptor / P08138*  / reaction
 ENSMUSG00000027164 Traf6 / P70196 / TNF receptor-associated factor 6 / Q9Y4K3*  / reaction
 ENSMUSG00000015750 Aph1a / Q8BVF7 / Gamma-secretase subunit APH-1A / Q96BI3* / aph-1 homolog A, gamma-secretase subunit*  / complex
 ENSMUSG00000010609 Psen2 / presenilin 2 / P49810*  / complex
 ENSMUSG00000032375 Aph1b / Q8C7N7 / Gamma-secretase subunit APH-1B / Q8WW43* / aph-1 homolog B, 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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