ENSMUSG00000048920


Mus musculus

Features
Gene ID: ENSMUSG00000048920
  
Biological name :Fkrp
  
Synonyms : Fkrp / Mus musculus fukutin related protein (Fkrp), transcript variant 2, mRNA. / Q8CG64
  
Possible biological names infered from orthology : fukutin related protein / Q9H9S5
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: A2
Gene start: 16809246
Gene end: 16816732
  
Corresponding Affymetrix probe sets: 10560300 (MoGene1.0st)   1436812_at (Mouse Genome 430 2.0 Array)   1437536_at (Mouse Genome 430 2.0 Array)   1438414_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000059091
Ensembl peptide - ENSMUSP00000145701
NCBI entrez gene - 243853     See in Manteia.
MGI - MGI:2447586
RefSeq - XM_011250562
RefSeq - NM_001358846
RefSeq - NM_173430
RefSeq - XM_006539928
RefSeq - XM_006539929
RefSeq - XM_006539930
RefSeq Peptide - NP_001345775
RefSeq Peptide - NP_775606
swissprot - A0A0U1RNU1
swissprot - Q8CG64
Ensembl - ENSMUSG00000048920
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fkrpENSDARG00000100467Danio rerio
 FKRPENSG00000181027Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR007074  LicD family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0009101 glycoprotein biosynthetic process IDA
 biological_processGO:0016485 protein processing IDA
 biological_processGO:0035269 protein O-linked mannosylation IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005791 rough endoplasmic reticulum ISO
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016010 dystrophin-associated glycoprotein complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042383 sarcolemma IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000440 domed skull 
Show

Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 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: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0000857 abnormal cerebellar foliation "malformation of small offshoots of the cerebellar lobules" [Principles of Neural Science:ISBN 0-8385-8034-3, J:52951]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 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: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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: Prox2tm1Aoh/Prox2+
Genetic Background: either: (involves: 129 * 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)

 MP:0002697 abnormal eye size "anomalous bulk of the organ of vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0002699 abnormal vitreous body "anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0002941 increased circulating alanine transaminase level "increased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

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

Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0003199 muscle calcification "pathologic deposition of calcium salts in muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0003381 vitreal fibroplasia "production of excess fibrous tissue in the vitreous body of the eye" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0004246 abnormal extensor digitorum longus morphology "any structural anomaly of penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: 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]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0005241 abnormal retinal ganglion layer morphology "anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0005277 abnormal brainstem morphology "anomalous structure of the midbrain, pons, or medulla" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82670]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0006221 optic nerve hypoplasia "less than the normal number of fibers in the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0008259 abnormal optic disc morphology "any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: C57BL/6

 MP:0009412 skeletal muscle fiber degeneration "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0009419 skeletal muscle fibrosis "formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0009461 skeletal muscle hypertrophy "increase in the bulk size of the skeletal muscle due to cell enlargement" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+,Tg(CAG-LARGE)126Fmu/0
Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0010235 abnormal retina inner limiting membrane morphology "any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Fkrptm1Scbr/Fkrptm1Scbr
Genetic Background: involves: 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: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

 MP:0012031 abnormal b wave amplitude "anomaly in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0012145 increased a wave amplitude "increase in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Fkrptvrm53/Fkrptvrm53
Genetic Background: C57BL/6J-Fkrptvrm53/Pjn

 MP:0030265 parietal bossing "an area of marked prominence or protrusion in the parietal region" [HP:0004641, MGI:anna]
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Allelic Composition: Clcn4tm1Tjj/Clcn4tm1Tjj,Clcn5tm6.1Tjj/Y,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

  


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






 

1 s.

 
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