ENSMUSG00000039952


Mus musculus

Features
Gene ID: ENSMUSG00000039952
  
Biological name :Dag1
  
Synonyms : Dag1 / Dystroglycan Alpha-dystroglycan Beta-dystroglycan / Q62165
  
Possible biological names infered from orthology : dystroglycan 1 / Q14118
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: F1
Gene start: 108204634
Gene end: 108263958
  
Corresponding Affymetrix probe sets: 10596893 (MoGene1.0st)   1423872_a_at (Mouse Genome 430 2.0 Array)   1426778_at (Mouse Genome 430 2.0 Array)   1426779_x_at (Mouse Genome 430 2.0 Array)   1456131_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000141921
Ensembl peptide - ENSMUSP00000141385
Ensembl peptide - ENSMUSP00000142109
Ensembl peptide - ENSMUSP00000079294
Ensembl peptide - ENSMUSP00000128531
Ensembl peptide - ENSMUSP00000130626
NCBI entrez gene - 13138     See in Manteia.
MGI - MGI:101864
RefSeq - XM_006511636
RefSeq - NM_001276481
RefSeq - NM_001276482
RefSeq - NM_001276485
RefSeq - NM_001276486
RefSeq - NM_001276492
RefSeq - NM_001276493
RefSeq - NM_010017
RefSeq Peptide - NP_001263422
RefSeq Peptide - NP_034147
RefSeq Peptide - NP_001263411
RefSeq Peptide - NP_001263414
RefSeq Peptide - NP_001263410
RefSeq Peptide - NP_001263415
RefSeq Peptide - NP_001263421
swissprot - Q62165
swissprot - A0A0A6YXB6
swissprot - Q544G5
swissprot - A0A0A6YW41
Ensembl - ENSMUSG00000039952
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dag1ENSDARG00000016153Danio rerio
 DAG1ENSGALG00000037784Gallus gallus
 DAG1ENSG00000173402Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006644  Dystroglycan-type cadherin-like
 IPR008465  Dystroglycan
 IPR013783  Immunoglobulin-like fold
 IPR015919  Cadherin-like
 IPR027468  Alpha-dystroglycan domain 2
 IPR030398  DG-type SEA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001954 positive regulation of cell-matrix adhesion IEA
 biological_processGO:0002011 morphogenesis of an epithelial sheet IMP
 biological_processGO:0006509 membrane protein ectodomain proteolysis ISO
 biological_processGO:0006607 NLS-bearing protein import into nucleus ISO
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane ISO
 biological_processGO:0007568 aging IEA
 biological_processGO:0010470 regulation of gastrulation ISO
 biological_processGO:0010717 regulation of epithelial to mesenchymal transition ISO
 biological_processGO:0014037 Schwann cell differentiation IEA
 biological_processGO:0014044 Schwann cell development IMP
 biological_processGO:0014894 response to denervation involved in regulation of muscle adaptation IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016340 calcium-dependent cell-matrix adhesion IEA
 biological_processGO:0019048 modulation by virus of host morphology or physiology ISO
 biological_processGO:0021675 nerve development IEA
 biological_processGO:0021682 nerve maturation IMP
 biological_processGO:0022011 myelination in peripheral nervous system IMP
 biological_processGO:0030336 negative regulation of cell migration ISO
 biological_processGO:0031103 axon regeneration IEA
 biological_processGO:0031643 positive regulation of myelination IEA
 biological_processGO:0034453 microtubule anchoring ISO
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0043409 negative regulation of MAPK cascade ISO
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0045860 positive regulation of protein kinase activity IEA
 biological_processGO:0048714 positive regulation of oligodendrocyte differentiation IEA
 biological_processGO:0051898 negative regulation of protein kinase B signaling ISO
 biological_processGO:0060055 angiogenesis involved in wound healing IEA
 biological_processGO:0060441 epithelial tube branching involved in lung morphogenesis IMP
 biological_processGO:0060445 branching involved in salivary gland morphogenesis IMP
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071397 cellular response to cholesterol IEA
 biological_processGO:0071679 commissural neuron axon guidance IMP
 biological_processGO:0071711 basement membrane organization IMP
 biological_processGO:1904261 positive regulation of basement membrane assembly involved in embryonic body morphogenesis ISO
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005604 basement membrane ISO
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005913 cell-cell adherens junction IEA
 cellular_componentGO:0005925 focal adhesion ISO
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016010 dystrophin-associated glycoprotein complex ISO
 cellular_componentGO:0016011 dystroglycan complex IMP
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030027 lamellipodium ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030175 filopodium ISO
 cellular_componentGO:0031012 extracellular matrix ISO
 cellular_componentGO:0033268 node of Ranvier IMP
 cellular_componentGO:0034399 nuclear periphery IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043034 costamere IEA
 cellular_componentGO:0044853 plasma membrane raft IEA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0070938 contractile ring ISO
 molecular_functionGO:0002162 dystroglycan binding IPI
 molecular_functionGO:0003779 actin binding ISO
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle ISO
 molecular_functionGO:0015631 tubulin binding ISO
 molecular_functionGO:0017166 vinculin binding ISO
 molecular_functionGO:0042169 SH2 domain binding ISO
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043236 laminin binding IEA
 molecular_functionGO:0043237 laminin-1 binding IEA
 molecular_functionGO:0051393 alpha-actinin binding ISO


Pathways (from Reactome)
Pathway description
ECM proteoglycans
O-linked glycosylation
Regulation of expression of SLITs and ROBOs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0000434 megacephaly "an abnormally large size of the head" [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: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dag1tm1Kcam/Dag1tm2Kcam,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 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: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dag1tm4.1Kcam/Dag1tm4.1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000854 abnormal cerebellum development "malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [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: Itgb4tm1Mfel/Itgb4tm1.1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Dag1tm4.1Kcam/Dag1tm4.1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001264 increased body size "larger than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Cybbtm1Din/Y
Genetic Background: B6.129S-Cybbtm1Din

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cybbtm1Din/Y
Genetic Background: B6.129S-Cybbtm1Din

 MP:0001473 reduced long term potentiation "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Erc2tm1.2Sud/Erc2tm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002001 blindness "loss of the sense of sight" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cybbtm1Din/Y
Genetic Background: B6.129S-Cybbtm1Din

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Sh2d1atm1Pls/Sh2d1atm1Pls,Tg(TcraTcrb)1100Mjb/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Dag1tm5Kcam/Dag1tm5Kcam
Genetic Background: B6.129S6-Dag1tm5Kcam/J

 MP:0002546 mydriasis "dilation of one or both pupils" [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: Cybbtm1Din/Y
Genetic Background: B6.129S-Cybbtm1Din

 MP:0002583 absent extraembryonic ectoderm "missing layer of the endoderm of the extraembryonic tissue" [J:40596, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * 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]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * 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: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 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: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003852 skeletal muscle necrosis "pathological cell death in the skeletal muscle, usually due to irreversible damage" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb4tm1Mfel/Itgb4tm1.1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0003954 abnormal Reichert s membrane "aberrant structure of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm beginning at E6.0 and is secreted by the distal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Dag1tm3Kcam/Dag1tm3Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 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: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0005165 increased susceptibility to injury "greater than the normal reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sh2d1atm1Pls/Sh2d1atm1Pls,Tg(TcraTcrb)1100Mjb/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Dag1tm1.1Swin/Dag1tm1.1Swin,Dmdmdx/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dag1tm1Kcam/Dag1tm2Kcam,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb4tm1Mfel/Itgb4tm1.1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb4tm1Mfel/Itgb4tm1.1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb4tm1Mfel/Itgb4tm1.1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * 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: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dag1tm1Kcam/Dag1tm2Kcam,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0008263 abnormal hippocampus CA1 region morphology 
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008285 abnormal hippocampus granule cell layer 
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Itgb4tm1Mfel/Itgb4tm1Mfel,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0009027 abnormal subarachnoid space morphology "any structural anomaly of the space between the arachnoid and dura mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Med1tm1.1Mpk/Med1tm1.1Mpk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0009274 buphthalmos "abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009401 increased skeletal muscle fiber diameter "increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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"]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dag1tm4.1Kcam/Dag1tm4.1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Dag1tm1.1Swin/Dag1tm1.1Swin,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

Allelic Composition: Dag1tm1.1Swin/Dag1tm1.1Swin,Dmdmdx/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

 MP:0009450 abnormal axon fasiculation "anomaly in the process by which axons form into bundles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 MP:0009677 abnormal spinal cord dorsal column morphology "any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN-10:0940780577 "Goldberg, S, Clinical Neuroanatomy Made Ridiculously Simple, 3rd edition"]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 MP:0009695 abnormal spinal cord ventral commissure morphology "any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 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: Dag1tm4.1Kcam/Dag1tm4.1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010090 increased circulating creatine kinase level "an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dag1tm1.1Swin/Dag1tm1.1Swin,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

Allelic Composition: Dag1tm1.1Swin/Dag1tm1.1Swin,Dmdmdx/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

 MP:0010238 increased skeletal muscle weight "greater than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Myl1tm1(cre)Sjb/Myl1+,Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Dag1tm3Kcam/Dag1tm3Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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]
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Allelic Composition: Agtr1atm2Tma/Agtr1atm2Tma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011481 anterior iris synechia "adhesion of the iris to the cornea" [MGI:anna]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0020391 radial glial endfoot detachment "detachment of the radial glia cell endfoot from the pial basement membrane" [MGI:anna, PMID:17715063, PMID:23217742, PMID:24256719]
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Allelic Composition: Hoxa2tm2.1Fmr/Hoxa2tm2.1Fmr,Hoxb2tm2.2Fmr/Hoxb2tm2.2Fmr
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034126 Pomt2 / Q8BGQ4 / Protein O-mannosyl-transferase 2 / Q9UKY4* / protein O-mannosyltransferase 2*  / reaction
 ENSMUSG00000039254 Pomt1 / Q8R2R1 / Protein O-mannosyl-transferase 1 / Q9Y6A1* / protein O-mannosyltransferase 1*  / reaction
 ENSMUSG00000037251 Pomk / Q3TUA9 / Protein O-mannose kinase / Q9H5K3*  / reaction
 ENSMUSG00000028763 Hspg2 / perlecan (heparan sulfate proteoglycan 2) / P98160* / heparan sulfate proteoglycan 2*  / reaction / complex
 ENSMUSG00000031558 Slit2 / Q9R1B9 / slit guidance ligand 2 / O94813*  / complex / reaction
 ENSMUSG00000039952 Dag1 / Q62165 / Dystroglycan Alpha-dystroglycan Beta-dystroglycan / Q14118* / dystroglycan 1*  / complex
 ENSMUSG00000066235 Q8BW41 / Pomgnt2 / Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 / Q8NAT1* / protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)*  / reaction
 ENSMUSG00000028700 Q91X88 / Pomgnt1 / Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 / Q8WZA1* / protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)*  / reaction
 ENSMUSG00000039242 Q8BG28 / B3galnt2 / UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 / Q8NCR0* / beta-1,3-N-acetylgalactosaminyltransferase 2*  / reaction






 

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