ENSMUSG00000051747


Mus musculus

Features
Gene ID: ENSMUSG00000051747
  
Biological name :Ttn
  
Synonyms : A2ASS6 / titin / Ttn
  
Possible biological names infered from orthology : Q8WZ42
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C3
Gene start: 76703980
Gene end: 76982547
  
Corresponding Affymetrix probe sets: 10483871 (MoGene1.0st)   10484190 (MoGene1.0st)   10484195 (MoGene1.0st)   1427445_a_at (Mouse Genome 430 2.0 Array)   1427446_s_at (Mouse Genome 430 2.0 Array)   1431928_at (Mouse Genome 430 2.0 Array)   1443001_at (Mouse Genome 430 2.0 Array)   1444083_at (Mouse Genome 430 2.0 Array)   1444638_at (Mouse Genome 430 2.0 Array)   1446450_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116594
Ensembl peptide - ENSMUSP00000116031
Ensembl peptide - ENSMUSP00000117059
Ensembl peptide - ENSMUSP00000140714
Ensembl peptide - ENSMUSP00000123202
Ensembl peptide - ENSMUSP00000122470
Ensembl peptide - ENSMUSP00000121095
Ensembl peptide - ENSMUSP00000119894
Ensembl peptide - ENSMUSP00000119089
Ensembl peptide - ENSMUSP00000118602
Ensembl peptide - ENSMUSP00000118492
Ensembl peptide - ENSMUSP00000118209
Ensembl peptide - ENSMUSP00000117534
Ensembl peptide - ENSMUSP00000117447
Ensembl peptide - ENSMUSP00000011934
Ensembl peptide - ENSMUSP00000097560
Ensembl peptide - ENSMUSP00000097561
Ensembl peptide - ENSMUSP00000107477
Ensembl peptide - ENSMUSP00000107513
Ensembl peptide - ENSMUSP00000114666
Ensembl peptide - ENSMUSP00000115190
NCBI entrez gene - 22138     See in Manteia.
MGI - MGI:98864
RefSeq - XM_017317139
RefSeq - NM_011652
RefSeq - NM_028004
RefSeq - XM_011239438
RefSeq Peptide - NP_082280
RefSeq Peptide - NP_035782
swissprot - A2AT66
swissprot - A2AT65
swissprot - A2AT64
swissprot - A2AT63
swissprot - A2AT62
swissprot - A2AT61
swissprot - F6Q6Z0
swissprot - F6RSJ3
swissprot - F6ZRX7
swissprot - F6ZZ75
swissprot - F7CR78
swissprot - A2ASS6
swissprot - Q8BUJ6
swissprot - A0A087WRP0
swissprot - E9Q8N1
swissprot - E9Q8K5
swissprot - A2AT68
swissprot - A2AT70
swissprot - A2AT67
Ensembl - ENSMUSG00000051747
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ttn.1ENSDARG00000000563Danio rerio
 ttn.2ENSDARG00000028213Danio rerio
 TTNENSG00000155657Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Obscn / obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF / Q5VST9*ENSMUSG000000614624
Hmcn1 / D3YXG0 / Hemicentin-1 / Q96RW7*ENSMUSG000000668423
Hmcn2 / A2AJ76 / Hemicentin-2 / Q8NDA2*ENSMUSG000000556323
Obsl1 / D3YYU8 / Obscurin-like protein 1 / O75147* / obscurin like 1*ENSMUSG000000262111
Mypn / Q5DTJ9 / Myopalladin / Q86TC9*ENSMUSG000000200671
Palld / Q9ET54 / Palladin / Q8WX93* / palladin, cytoskeletal associated protein*ENSMUSG000000580561
Igsf10 / Q3V1M1 / Immunoglobulin superfamily member 10 / Q6WRI0*ENSMUSG000000363341
Myot / Q9JIF9 / myotilin / Q9UBF9*ENSMUSG000000244710


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR004168  PPAK motif
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR015129  Titin, Z repeat
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001756 somitogenesis IEP
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0003300 cardiac muscle hypertrophy ISO
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006936 muscle contraction IMP
 biological_processGO:0006941 striated muscle contraction IBA
 biological_processGO:0007015 actin filament organization IBA
 biological_processGO:0007507 heart development IEP
 biological_processGO:0007512 adult heart development IMP
 biological_processGO:0010628 positive regulation of gene expression ISO
 biological_processGO:0010737 protein kinase A signaling ISO
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0021591 ventricular system development IMP
 biological_processGO:0030240 skeletal muscle thin filament assembly ISO
 biological_processGO:0030241 skeletal muscle myosin thick filament assembly ISO
 biological_processGO:0035995 detection of muscle stretch ISO
 biological_processGO:0043056 forward locomotion IMP
 biological_processGO:0045214 sarcomere organization TAS
 biological_processGO:0045859 regulation of protein kinase activity ISO
 biological_processGO:0048739 cardiac muscle fiber development ISO
 biological_processGO:0048769 sarcomerogenesis ISO
 biological_processGO:0050714 positive regulation of protein secretion ISO
 biological_processGO:0050790 regulation of catalytic activity ISO
 biological_processGO:0051592 response to calcium ion ISO
 biological_processGO:0055002 striated muscle cell development IMP
 biological_processGO:0055003 cardiac myofibril assembly ISO
 biological_processGO:0055008 cardiac muscle tissue morphogenesis ISO
 biological_processGO:0060048 cardiac muscle contraction ISO
 biological_processGO:0060419 heart growth IMP
 biological_processGO:0071688 striated muscle myosin thick filament assembly IBA
 biological_processGO:1901897 regulation of relaxation of cardiac muscle IMP
 cellular_componentGO:0000794 condensed nuclear chromosome ISO
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005859 muscle myosin complex TAS
 cellular_componentGO:0005865 striated muscle thin filament ISO
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0030018 Z disc ISO
 cellular_componentGO:0031430 M band ISO
 cellular_componentGO:0031672 A band IDA
 cellular_componentGO:0031674 I band ISO
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0002020 protease binding ISO
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISO
 molecular_functionGO:0004713 protein tyrosine kinase activity ISO
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005509 calcium ion binding ISO
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding ISO
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008307 structural constituent of muscle ISO
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0019901 protein kinase binding ISO
 molecular_functionGO:0030506 ankyrin binding IPI
 molecular_functionGO:0031433 telethonin binding ISO
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042805 actinin binding ISO
 molecular_functionGO:0043621 protein self-association ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IBA
 molecular_functionGO:0051371 muscle alpha-actinin binding IBA
 molecular_functionGO:0097493 structural molecule activity conferring elasticity IBA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: Not Specified

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000260 abnormal angiogenesis "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0000263 absent organized vascular network "formation of vasculature, but failure to differentiate into stereotypic organized pattern" [J:53370]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
Show

Allelic Composition: Msh6tm1Wed/Msh6+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0000279 ventricular hypoplasia "reduction in cell number of one or both of the two lower chambers of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Egfrtm1Msi/Egfrtm1Msi,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0000316 cellular necrosis "pathologic death of cells, usually from irreversible damage" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * 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]
Show

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: Not Specified

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 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]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: involves: C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001344 blepharoptosis "ptosis, drooping eyelids " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:24414]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 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]
Show

Allelic Composition: Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic Background: B6.129P2-Lrp5tm1Dgen/J

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 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]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: Not Specified

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: involves: C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic Background: B6.129P2-Lrp5tm1Dgen/J

Allelic Composition: Ttntm2.1Mgot/Ttn+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 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]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 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]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ttntm1Her/Ttntm1Her
Genetic Background: Not Specified

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttn+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

Allelic Composition: Ttntm3.1Mgot/Ttntm3.1Mgot
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0002189 abnormal myocardial trabeculae morphology "malformation of the supporting bundles of muscular fibers lining the walls of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Msh6tm1Wed/Msh6+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic Background: B6.129P2-Lrp5tm1Dgen/J

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 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]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

 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]
Show

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
Show

Allelic Composition: Ttntm1Brge/Ttn+
Genetic Background: B6.Cg-Ttntm1Brge

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 MP:0002834 decreased heart weight "less than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Egfrtm1Msi/Egfrtm1Msi,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0002953 thick ventricular wall "increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 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]
Show

Allelic Composition: Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic Background: B6.129P2-Lrp5tm1Dgen/J

 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]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003082 abnormal gastrocnemius morphology "anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003083 abnormal tibialis anterior morphology "anomaly in the the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003358 abnormal hypaxial muscle morphology "malformation of the muscles of the limbs" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm1Brge/Ttn+
Genetic Background: B6.Cg-Ttntm1Brge

 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]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003820 increased left ventricle systolic pressure "increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
Show

Allelic Composition: Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic Background: B6.129P2-Lrp5tm1Dgen/J

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm1Brge/Ttn+
Genetic Background: B6.Cg-Ttntm1Brge

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0003923 abnormal left atrium morphology "structural anomaly of the left upper chamber of the heart " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 MP:0004011 decreased diastolic filling velocity "reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Egfrtm1Msi/Egfrtm1Msi,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0004086 absent heartbeat "lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)" [J:69362, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 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]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ttntm1Mgot/Ttntm1Mgot
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ttntm2.1Mgot/Ttntm2.1Mgot
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0004094 abnormal M lines "any structural anomaly in the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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"]
Show

Allelic Composition: Ttntm1Mgot/Ttntm1Mgot
Genetic Background: involves: 129 * C57BL/6

 MP:0004510 myositis "inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]
Show

Allelic Composition: Ttnmdm/Ttnmdm
Genetic Background: Not Specified

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * 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"]
Show

Allelic Composition: Ttntm2.1Mgot/Ttntm2.1Mgot
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0005039 hypoxia "reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 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]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

Allelic Composition: Ttntm1Brge/Ttn+
Genetic Background: B6.Cg-Ttntm1Brge

 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]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

 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]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

 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]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
Show

Allelic Composition: Ttntm1Brge/Ttn+
Genetic Background: B6.Cg-Ttntm1Brge

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 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"]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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"]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 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"]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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"]
Show

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0009426 decreased soleus weight "reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0010225 abnormal quadriceps morphology "any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0010579 increased heart left ventricle size "greater than average size of the left ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ttntm2.1Mgot/Ttntm2.1Mgot
Genetic Background: involves: 129S6/SvEvTac * 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]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Ttntm1Brge/Ttntm1Brge
Genetic Background: B6.Cg-Ttntm1Brge

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

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 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]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
Show

Allelic Composition: Nf1tm1Par/Nf1tm1Fcr,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011266 abnormal frontonasal mesenchyme morphology "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head" [ISBN:0-683-40008-8, MGI:csmith]
Show

Allelic Composition: Slc45a2uw/Slc45a2uw
Genetic Background: C57BL/6J-Slc45a2uw/J

 MP:0011915 increased heart left atrium weight "more than average weight of the left atrium" [MPD:Molly]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0012106 impaired exercise endurance "impaired performance during controlled physical activity" [MGI:smb]
Show

Allelic Composition: Ttntm1.1Hgra/Ttntm1.1Hgra
Genetic Background: B6.Cg-Ttntm1.1Hgra

Allelic Composition: Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic Background: B6J.Cg-Ttntm2.1Hgra

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Ttntm1.1Her/Ttntm1.1Her
Genetic Background: involves: 129S4/SvJae * 129T2/SvEms

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020908 Myh3 / P13541 / Myosin-3 / P11055* / myosin heavy chain 3*  / reaction / complex
 ENSMUSG00000040752 Myh6 / Q02566 / myosin, heavy polypeptide 6, cardiac muscle, alpha / P13533* / myosin heavy chain 6*  / complex / reaction
 ENSMUSG00000061086 Myl4 / Mus musculus myosin, light polypeptide 4 (Myl4), transcript variant 2, mRNA. / P12829* / myosin light chain 4*  / complex
 ENSMUSG00000059741 Myl3 / P09542 / Myosin light chain 3 / P08590*  / complex
 ENSMUSG00000013936 Myl2 / P51667 / Myosin regulatory light chain 2, ventricular/cardiac muscle isoform / P10916* / myosin light chain 2*  / complex
 ENSMUSG00000061816 Myl1 / P05977 / Myosin light chain 1/3, skeletal muscle isoform / P05976* / myosin light chain 1*  / complex
 ENSMUSG00000038670 Mybpc2 / Q5XKE0 / Myosin-binding protein C, fast-type / Q14324*  / complex
 ENSMUSG00000055775 Myh8 / P13542 / Myosin-8 / P13535* / myosin heavy chain 8*  / complex / reaction
 ENSMUSG00000020061 Mybpc1 / myosin binding protein C, slow type / Q00872*  / complex
 ENSMUSG00000002100 Mybpc3 / myosin binding protein C, cardiac / Q14896*  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr