ENSMUSG00000020315


Mus musculus

Features
Gene ID: ENSMUSG00000020315
  
Biological name :Sptbn1
  
Synonyms : Q62261 / Spectrin beta chain, non-erythrocytic 1 / Sptbn1
  
Possible biological names infered from orthology : Q01082 / spectrin beta, non-erythrocytic 1
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: A3.3
Gene start: 30099395
Gene end: 30268175
  
Corresponding Affymetrix probe sets: 10384885 (MoGene1.0st)   1419255_at (Mouse Genome 430 2.0 Array)   1419256_at (Mouse Genome 430 2.0 Array)   1441507_at (Mouse Genome 430 2.0 Array)   1444089_at (Mouse Genome 430 2.0 Array)   1451830_a_at (Mouse Genome 430 2.0 Array)   1452143_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006629
Ensembl peptide - ENSMUSP00000011877
Ensembl peptide - ENSMUSP00000099902
Ensembl peptide - ENSMUSP00000114841
NCBI entrez gene - 20742     See in Manteia.
MGI - MGI:98388
RefSeq - XM_006514601
RefSeq - NM_009260
RefSeq - NM_175836
RefSeq - XM_006514599
RefSeq - XM_006514600
RefSeq Peptide - NP_033286
RefSeq Peptide - NP_787030
swissprot - Q62261
swissprot - A0A0A0MQG2
Ensembl - ENSMUSG00000020315
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:zfos-1837d3.1ENSDARG00000105428Danio rerio
 sptbn1ENSDARG00000102883Danio rerio
 SPTBN1ENSGALG00000029512Gallus gallus
 Q01082ENSG00000115306Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*ENSMUSG0000006788963
Sptb / spectrin beta, erythrocytic / P11277*ENSMUSG0000002106158
Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*ENSMUSG0000001175151
P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*ENSMUSG0000005773823
Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*ENSMUSG0000002653221
Actn1 / Q7TPR4 / Mus musculus actinin, alpha 1 (Actn1), transcript variant 2, mRNA. / P12814* / actinin alpha 1*ENSMUSG0000001514312
Actn4 / P57780 / Alpha-actinin-4 / O43707* / actinin alpha 4*ENSMUSG0000005480812
Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*ENSMUSG0000005237411
Actn3 / O88990 / Alpha-actinin-3 / Q08043* / actinin alpha 3 (gene/pseudogene)*ENSMUSG0000000645711


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001605  Pleckstrin homology domain, spectrin-type
 IPR001715  Calponin homology domain
 IPR001849  Pleckstrin homology domain
 IPR002017  Spectrin repeat
 IPR011993  PH-like domain superfamily
 IPR016343  Spectrin, beta subunit
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis ISO
 biological_processGO:0007009 plasma membrane organization ISO
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007182 common-partner SMAD protein phosphorylation IDA
 biological_processGO:0043001 Golgi to plasma membrane protein transport ISO
 biological_processGO:0051693 actin filament capping IEA
 biological_processGO:0071709 membrane assembly ISO
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:1900042 positive regulation of interleukin-2 secretion ISO
 biological_processGO:1903076 regulation of protein localization to plasma membrane ISO
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane ISO
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0008091 spectrin IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0030673 axolemma IDA
 cellular_componentGO:0030863 cortical cytoskeleton IDA
 cellular_componentGO:0031430 M band IDA
 cellular_componentGO:0032437 cuticular plate IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0030506 ankyrin binding ISO
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0051020 GTPase binding ISO


Pathways (from Reactome)
Pathway description
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000183 decreased circulating LDL cholesterol level "less than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0000462 abnormal digestive system morphology "anomalous structure of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0000600 liver hypoplasia "reduced size of liver due to decreased cell number " [J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0001148 enlarged testes "increased size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:63229]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0001264 increased body size "larger than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0002027 lung adenocarcinoma "malignant neoplasm of epithelial cells in the lung" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:18542]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0002038 carcinoma "malignant neoplasm arising from epithelial cells, usually glandular or squamous" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 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: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0002177 abnormal outer ear morphology "malformation or malfunction of any components of the auricles or external acoustic meatus" [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: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 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: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0002942 decreased circulating alanine transaminase level "decreased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0003077 abnormal cell cycle "failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]
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Allelic Composition: Itpr3tf/Itpr3tf,Prkralear-5J/Prkralear-5J
Genetic Background: BTBR-Prkralear-5J Itpr3tf/GrsrJ

 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: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0003331 hepatocellular carcinoma "malignant neoplasm arising from liver cells" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Cyp11a1tm2Bcc/Cyp11a1tm2Bcc
Genetic Background: Not Specified

Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0004001 decreased hepatocyte proliferation "reduced growth and reproduction of hepatocyte cells of the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cyp11a1tm2Bcc/Cyp11a1tm2Bcc
Genetic Background: Not Specified

Allelic Composition: Itih4tm1Mish/Itih4tm1Mish,Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss

 MP:0004045 abnormal cell cycle checkpoint function "anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Itpr3tf/Itpr3tf,Prkralear-5J/Prkralear-5J
Genetic Background: BTBR-Prkralear-5J Itpr3tf/GrsrJ

 MP:0004759 decreased mitotic index "decreased number of cells in G2/M phase" [Bertram_Weiss:Bayer_Schering_Pharma_AG]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0005419 hypoalbuminemia "blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0005567 decreased circulating total protein level "less than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0005571 decreased lactate dehydrogenase level "less than the normal concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Spns2tm1a(KOMP)Wtsi/Spns2tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Spns2tm1a(KOMP)Wtsi/Wtsi

 MP:0006262 testis tumor "presence of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:60034]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0008000 ovary tumor "presence of abnormal rapidly proliferating cells in the ovary, usually in the form of a distinct mass" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0008019 liver tumor "presence of abnormal, rapidly proliferating cells in the liver usually in the form of a distinct mass" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0008788 abnormal fetal cardiomyocyte morphology "any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [PMID:17429040]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

Allelic Composition: Sptbn1tm1c(EUCOMM)Wtsi/Sptbn1tm1c(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008891 decreased hepatocyte apoptosis "reduction in the number of hepatocytes undergoing programmed cell death" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Itih4tm1Mish/Itih4tm1Mish,Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss

 MP:0009906 increased tongue size "greater size the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010266 decreased liver tumor incidence "less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itih4tm1Mish/Itih4tm1Mish,Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss

 MP:0010278 increased glioma incidence "greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010346 increased thyroid carcinioma incidence "greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010366 increased adrenal cortical tumor incidence "greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010383 increased adenoma incidence "greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:C04.557.470.035]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010384 increased renal carcinoma incidence "greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0010503 myocardial trabeculae hypoplasia "underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the heart, usually due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0010556 thin ventricle myocardium compact layer "reduced thickness of the ventricular portion of the outer, dense layer of the myocardium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0010561 absent coronary vessels "absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0010733 abnormal axon initial segment morphology "any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs" [PMID:18929652]
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Allelic Composition: Nuak1tm1Sia/Nuak1tm1Sia,Nuak2tm1Sia/Nuak2tm1Sia
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Nuak1tm1Sia/Nuak1tm1Sia,Nuak2tm1Sia/Nuak2tm1Sia
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Tsg101tm1Mak/Tsg101tm1Mak
Genetic Background: involves: 129P3/J * 129S2/SvPas * C57BL/6 * CD-1

 MP:0011390 abnormal fetal cardiomyocyte physiology "any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [MGI:csmith, PMID:17429040]
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Allelic Composition: Sptbn1tm1c(EUCOMM)Wtsi/Sptbn1tm1c(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0011392 increased fetal cardiomyocyte apoptosis "increase in the number of fetal cardiomyocytes undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

Allelic Composition: Sptbn1tm1c(EUCOMM)Wtsi/Sptbn1tm1c(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0011395 decreased fetal cardiomyocyte proliferation "reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

Allelic Composition: Sptbn1tm1c(EUCOMM)Wtsi/Sptbn1tm1c(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0013309 adrenal gland cyst "presence of fluid-filled usually benign growths in the adrenal gland" [MGI:Anna]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0013328 visceromegaly "abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas" [MGI:Anna]
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Allelic Composition: Sptbn1tm1Mish/Sptbn1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0020135 abnormal heart ventricle wall thickness "anomaly in the depth of the cardiac wall of the heart ventricles" [GOC:NV]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032826 Ank2 / Q8C8R3 / Ankyrin-2 / Q01484*  / complex / reaction
 ENSMUSG00000020315 Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*  / complex
 ENSMUSG00000021061 Sptb / spectrin beta, erythrocytic / P11277*  / complex
 ENSMUSG00000031543 Ank1 / Q02357 / Ankyrin-1 / P16157*  / reaction / complex
 ENSMUSG00000011751 Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*  / complex
 ENSMUSG00000067889 Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*  / complex
 ENSMUSG00000059923 Grb2 / Q60631 / Growth factor receptor-bound protein 2 / P62993*  / complex / reaction
 ENSMUSG00000026532 Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*  / complex
 ENSMUSG00000027303 Ptpra / P18052 / protein tyrosine phosphatase, receptor type, A / P18433*  / complex
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / complex
 ENSMUSG00000024241 Sos1 / Q62245 / Son of sevenless homolog 1 / Q07889* / SOS Ras/Rac guanine nucleotide exchange factor 1*  / reaction / complex
 ENSMUSG00000057738 P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*  / complex
 ENSMUSG00000019843 Fyn / P39688 / Tyrosine-protein kinase Fyn / P06241* / FYN proto-oncogene, Src family tyrosine kinase*  / complex
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex
 ENSMUSG00000022607 Ptk2 / P34152 / PTK2 protein tyrosine kinase 2 / Q05397* / protein tyrosine kinase 2*  / complex






 

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