ENSMUSG00000026208


Mus musculus

Features
Gene ID: ENSMUSG00000026208
  
Biological name :Des
  
Synonyms : Des / Desmin / P31001
  
Possible biological names infered from orthology : P17661
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: C4
Gene start: 75360329
Gene end: 75368579
  
Corresponding Affymetrix probe sets: 10347583 (MoGene1.0st)   1426731_at (Mouse Genome 430 2.0 Array)   1426732_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000027409
NCBI entrez gene - 13346     See in Manteia.
MGI - MGI:94885
RefSeq - NM_010043
RefSeq Peptide - NP_034173
swissprot - P31001
swissprot - Q3V1K9
Ensembl - ENSMUSG00000026208
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 desmaENSDARG00000058656Danio rerio
 desmbENSDARG00000005221Danio rerio
 DESENSGALG00000011306Gallus gallus
 DESENSG00000175084Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Vim / P20152 / vimentin / P08670*ENSMUSG0000002672862
Prph / peripherin / P41219*ENSMUSG0000002348458
Gfap / P03995 / Glial fibrillary acidic protein / P14136*ENSMUSG0000002093252
Ina / P46660 / internexin neuronal intermediate filament protein, alpha / Q16352*ENSMUSG0000003433645
Nefl / P08551 / Neurofilament light polypeptide / P07196* / neurofilament light*ENSMUSG0000002205544
Nefm / neurofilament medium / P07197*ENSMUSG0000002205438
Nefh / P19246 / Neurofilament heavy polypeptide / P12036* / neurofilament heavy*ENSMUSG0000002039637
Lmnb2 / P21619 / Lamin-B2 / Q03252*ENSMUSG0000006207527
Lmna / P48678 / Prelamin-A/C Lamin-A/C / P02545* / lamin A/C*ENSMUSG0000002806327
Lmnb1 / P14733 / Lamin-B1 / P20700*ENSMUSG0000002459027


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR006821  Intermediate filament head, DNA-binding domain
 IPR018039  Intermediate filament protein, conserved site
 IPR027698  Desmin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0045109 intermediate filament organization IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IDA
 cellular_componentGO:0005882 intermediate filament IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005916 fascia adherens IDA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0031594 neuromuscular junction IDA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043292 contractile fiber IDA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IEA
 cellular_componentGO:0097512 cardiac myofibril IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ptch1tm1Hahn/Ptch1tm1Hahn,Gt(ROSA)26Sortm2(cre/ERT2)Brn/Gt(ROSA)26Sor+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 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: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cap/Destm1Cap,Tg(Bcl2)BCap/Tg(Bcl2)BCap
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000281 abnormal ventricular septum morphology "abnormality in the wall between the ventricles of the heart, usually incomplete closure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Htra2tm1.1Hohj/Htra2tm1.1Hohj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6J

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
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Allelic Composition: Htra2tm1.1Hohj/Htra2tm1.1Hohj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6J

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
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Allelic Composition: Htra2tm1.1Hohj/Htra2tm1.1Hohj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6J

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000761 thin diaphragm muscle "reduced thickness of the diaphragm muscle" [MGI:CLS, J:60159]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0000767 abnormal smooth muscle morphology "anomalous structure of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Trp63tm2Brd/Trp63tm2Brd
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
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Allelic Composition: Htra2tm1.1Hohj/Htra2tm1.1Hohj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 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: Destm1Cba/Destm1Cba
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: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002190 disorganized myocardium "malformed or poorly developed cardiac muscle layers" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67044]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ptprcloc/Ptprcloc
Genetic Background: C57BL/6JSfdAnu-Ptprcloc/AnuApb

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002753 dilated left ventricle "an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002837 dystrophic cardiac calcinosis "a condition characterized by the localized deposition of calcium salts in the heart; often occuring in association with inflammation or atherosclerotic lesions and other pathological states" [J:76777, 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: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cap/Destm1Cap,Tg(Bcl2)ACap/Tg(Bcl2)ACap
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Destm1Cap/Destm1Cap,Tg(Bcl2)BCap/Tg(Bcl2)BCap
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [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: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0002953 thick ventricular wall "increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003057 abnormal epicardium morphology "anomalous structure of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0003081 abnormal soleus morphology "anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003137 abnormal impulse conducting system conduction "anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart" [hdene:Howard Dene , Mouse Genome Informatics Curator, J:92050, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003211 abnormal aorta elastic fiber morphology "malformation of a slender connective tissue fiber in aortic tissue characterized by great elasticity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0003819 increased left ventricle diastolic pressure "increase in the pressure in the left ventricle between heart beats when the heart is relaxed" [RGD:Rat Genome Database submission]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003824 decreased left ventricular developed pressure "decrease in the difference between left ventricular systolic and diastolic pressures" [RGD:Rat Genome Database submission]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003915 increased left ventricle weight "greater than average weight of the left ventricle compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003920 abnormal right ventricle morphology "structural anomaly of the right lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0004058 abnormal ventricular papillary muscle morphology "structural anomaly of one of the group of myocardial bundles which terrminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0004070 abnormal P wave "any anomaly in the P wave which is normally caused by atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0004084 abnormal cardiac muscle relaxation "altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0004566 myocardial fiber degeneration "deterioration or destruction of cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0004567 decreased myocardial fiber number "decreased number of cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Htra2tm1.1Hohj/Htra2tm1.1Hohj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cap/Destm1Cap
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Destm1Cap/Destm1Cap,Tg(Bcl2)ACap/Tg(Bcl2)ACap
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Destm1Cap/Destm1Cap,Tg(Bcl2)BCap/Tg(Bcl2)BCap
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0006085 myocardial necrosis "pathological cell death of the cardiac muscle cells, usually due to irreversible damage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92722]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

 MP:0006267 abnormal intercalated disc morphology "any structural abnormality in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:64280]
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Allelic Composition: Destm1Ltho/Destm1Ltho
Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA

 MP:0008543 atrial fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0008950 ventricular tachycardia "paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0009399 increased skeletal muscle fiber size "increase in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0009412 skeletal muscle fiber degeneration "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0009413 skeletal muscle fiber atrophy "a wasting of skeletal muscle fibers resulting in a derangement of the skeletal muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0009420 skeletal muscle endomysial fibrosis "replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0009732 ventricular premature beat "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0010508 abnormal heart electrocardiography waveform feature "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:20410536]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010520 sinoatrial block "a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010553 prolonged HV interval "increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Destm1.1Ccrs/Des+
Genetic Background: involves: 129 * C57BL/6J

 MP:0011630 increased mitochondria size "enlarged the cellular organelles responsible for energy production" [MGI:csmith]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0011952 decreased cardiac stroke volume "reduction in the volume of blood pushed into the aorta with each beat of the heart" [MGI:csmith]
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Allelic Composition: Destm1.1Ccrs/Destm1.1Ccrs
Genetic Background: involves: 129 * C57BL/6J

 MP:0012106 impaired exercise endurance "impaired performance during controlled physical activity" [MGI:smb]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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