ENSMUSG00000001552


Mus musculus

Features
Gene ID: ENSMUSG00000001552
  
Biological name :Jup
  
Synonyms : Junction plakoglobin / Jup / Q02257
  
Possible biological names infered from orthology : P14923
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: D
Gene start: 100368958
Gene end: 100397763
  
Corresponding Affymetrix probe sets: 10391103 (MoGene1.0st)   1426873_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001592
Ensembl peptide - ENSMUSP00000103026
NCBI entrez gene - 16480     See in Manteia.
MGI - MGI:96650
RefSeq - XM_006532316
RefSeq - NM_010593
RefSeq - XM_006532315
RefSeq Peptide - NP_034723
swissprot - Q02257
Ensembl - ENSMUSG00000001552
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jupaENSDARG00000070787Danio rerio
 jupbENSDARG00000059067Danio rerio
 JUPENSGALG00000017414Gallus gallus
 JUPENSG00000173801Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ctnnb1 / Q02248 / Catenin beta-1 / P35222*ENSMUSG0000000693266


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR013284  Beta-catenin
 IPR016024  Armadillo-type fold
 IPR030461  Junction plakoglobin/protein humpback-2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001954 positive regulation of cell-matrix adhesion IEA
 biological_processGO:0002159 desmosome assembly ISO
 biological_processGO:0007155 cell adhesion IDA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0016477 cell migration ISO
 biological_processGO:0034333 adherens junction assembly IEA
 biological_processGO:0042127 regulation of cell proliferation ISO
 biological_processGO:0042307 positive regulation of protein import into nucleus ISO
 biological_processGO:0043537 negative regulation of blood vessel endothelial cell migration IEA
 biological_processGO:0043588 skin development IMP
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0050982 detection of mechanical stimulus ISO
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity ISO
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0071681 cellular response to indole-3-methanol ISO
 biological_processGO:0072659 protein localization to plasma membrane ISO
 biological_processGO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication ISO
 biological_processGO:0086091 regulation of heart rate by cardiac conduction ISO
 biological_processGO:0098609 cell-cell adhesion ISO
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential ISO
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament IDA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction ISO
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005913 cell-cell adherens junction ISO
 cellular_componentGO:0005916 fascia adherens IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0014704 intercalated disc ISO
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016327 apicolateral plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0016342 catenin complex ISO
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome ISO
 cellular_componentGO:0031012 extracellular matrix ISO
 cellular_componentGO:0032993 protein-DNA complex ISO
 cellular_componentGO:0071665 gamma-catenin-TCF7L2 complex ISO
 molecular_functionGO:0003713 transcription coactivator activity ISO
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0019903 protein phosphatase binding IBA
 molecular_functionGO:0045294 alpha-catenin binding ISO
 molecular_functionGO:0045296 cadherin binding IBA
 molecular_functionGO:0050839 cell adhesion molecule binding ISO


Pathways (from Reactome)
Pathway description
Adherens junctions interactions
VEGFR2 mediated vascular permeability
Neutrophil degranulation
Keratinization
Formation of the cornified envelope


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: Bmpr1atm1Bhr/Bmpr1atm1Bhr
Genetic Background: 129S7/SvEvBrd-Bmpr1atm1Bhr

Allelic Composition: Juptm1Ruiz/Jup+,Tg(Myh6-Jup*)1Ajm/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Bmpr1atm1Bhr/Bmpr1atm1Bhr
Genetic Background: 129S7/SvEvBrd-Bmpr1atm1Bhr

 MP:0000601 small liver "reduced size of the liver" [J:23170]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0001208 blistering "accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001211 wrinkled skin "irregular folds and/or indentations on the skin" [J:19212]
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Allelic Composition: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001218 thin epidermis "reduced thickness of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001236 abnormal spinous layer morphology "structual or developmental anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001239 abnormal granular layer morphology "structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001241 absent cornified layer "missing the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Rhotm1.1Kpal/Rhotm1.1Kpal
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001853 heart inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0001855 atrial thrombosis "formation or presence of a thrombus in the atria of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dsptm1Efu/Dsptm1Efu,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0002626 increased heart rate "greater than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0002972 abnormal cardiac muscle contractility "altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003064 decreased coping response "reduced ability to respond productively to a stressful situation" [RGD:Rat Genome Database submission]
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Allelic Composition: Izumo1rtm1b(KOMP)Wtsi/Izumo1rtm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Izumo1rtm1b(KOMP)Wtsi/Rbrc

 MP:0003089 reduced skin tensile strength "reduction in the normal maximum tension the skin can withstand without tearing" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:48068]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0003222 increased cardiomyocyte apoptosis "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003828 pulmonary edema "an accumulation of an excessive amount of watery fluid in the lung " [J:44108, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 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: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0004093 diffuse Z lines "widely spread 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0004241 acantholysis "separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease" [MESH:C17.800.865.070]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004255 abnormal spongiotrophoblast layer morphology "anomaly in the structure of the outer structural layer of the rodent placenta" [PMID:11433360]
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Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004259 small placenta "reduced size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004564 enlarged myocardial fiber "increased size 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0004937 dilated heart "stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0005048 thrombosis "formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements " [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0005501 abnormal skin physiology "atypical function of the membranous protective covering of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0005564 increased hemoglobin content "increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
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Allelic Composition: Izumo1rtm1b(KOMP)Wtsi/Izumo1rtm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Izumo1rtm1b(KOMP)Wtsi/Rbrc

 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: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

Allelic Composition: Juptm1Ruiz/Jup+,Tg(Myh6-Jup*)1Ajm/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 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: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0006268 absent cardiac desmosomes "absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:64280]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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: Thtm1.1Ich/Thtm1.1Ich
Genetic Background: Not Specified

 MP:0008727 enlarged right atrium "increased size of the right upper chamber of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0008751 abnormal interleukin level "deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0008762 embryonic lethality "death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0009115 abnormal fat cell morphology "any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]
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Allelic Composition: Juptm1Ruiz/Jup+,Tg(Myh6-Jup*)1Ajm/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0009684 abnormal spinal cord lateral motor column morphology "any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb" [PMID:8895454 "Tanabe Y, Jessell TM Diversity and pattern in the developing spinal cord. Science. 1996 Nov 15;274(5290):1115-23."]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0009685 abnormal spinal cord motor column morphology "any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target" [PMID:8895454 "Tanabe Y, Jessell TM Diversity and pattern in the developing spinal cord. Science. 1996 Nov 15;274(5290):1115-23."]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0009686 abnormal spinal cord medial motor column morphology "any structural anomaly of the subclasses of motor neurons which project their axons to axial muscles that lie close to the vertebral column; motor neurons in the lateral subdivision of the MMC project their axons to body wall muscles" [PMID:8895454 "Tanabe Y, Jessell TM Diversity and pattern in the developing spinal cord. Science. 1996 Nov 15;274(5290):1115-23."]
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Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0010019 liver vascular congestion "obstruction of the normal flux of blood within the blood vessel network of the liver" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010394 decreased QRS amplitude "reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010421 ventricular aneurysm "thinning, stretching and bulging of a weakened ventricular wall" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
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: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010534 myocardial calcification "pathologic deposition of calcium salts in the myocardium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010563 increased heart right ventricle size "greater than average size of the right ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0010579 increased heart left ventricle size "greater than average size of the left ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Glr/Juptm1.1Glr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

 MP:0010632 cardiac muscle necrosis "pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1.1Shou/Juptm1.1Shou,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010725 thin interventricular septum "decreased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Juptm1Ruiz/Jup+,Tg(Myh6-Jup*)1Ajm/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Juptm1Ruiz/Jup+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Juptm1.1Chen/Juptm1.1Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Dsptm1Efu/Dsptm1Efu,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6

 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: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1Ruiz,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 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: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ctnnb1tm2Kem/Ctnnb1tm2Kem,Juptm1Ruiz/Juptm1.1Tmj,Olig2tm1(cre)Tmj/Olig2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Juntm2.1Wag/Juntm2.1Wag
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Juptm1Kem/Juptm1Kem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd

 MP:0011168 abnormal fat cell differentiation "abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449, MGI:csmith]
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Allelic Composition: Juptm1Ruiz/Jup+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011925 abnormal heart echocardiography feature "any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features" [MPD:Molly]
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Allelic Composition: Juptm1Ruiz/Jup+,Tg(Myh6-Jup*)1Ajm/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Juptm1Ruiz/Jup+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0012099 decreased spongiotrophoblast size "reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors" [MGI:csmith]
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Allelic Composition: Juptm1Ruiz/Juptm1Ruiz
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
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Allelic Composition: Izumo1rtm1b(KOMP)Wtsi/Izumo1rtm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Izumo1rtm1b(KOMP)Wtsi/Rbrc

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000022781 Pak2 / Q8CIN4 / Serine/threonine-protein kinase PAK 2 PAK-2p27 PAK-2p34 / Q13177* / p21 (RAC1) activated kinase 2*  / reaction
 ENSMUSG00000031284 Pak3 / Q61036 / Serine/threonine-protein kinase PAK 3 / O75914* / p21 (RAC1) activated kinase 3*  / reaction
 ENSMUSG00000037815 Ctnna1 / P26231 / Catenin alpha-1 / P35221*  / complex / reaction
 ENSMUSG00000031871 Cdh5 / P55284 / Cadherin-5 / P33151*  / complex
 ENSMUSG00000030774 Pak1 / Mus musculus p21 protein (Cdc42/Rac)-activated kinase 1 (Pak1), transcript variant 3, mRNA. / Q13153* / p21 (RAC1) activated kinase 1*  / reaction
 ENSMUSG00000101645 P30999 / Gm28635 / predicted gene 28635 / O60716* / CTNND1* / catenin delta 1*  / reaction / complex






 

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