ENSMUSG00000000378


Mus musculus

Features
Gene ID: ENSMUSG00000000378
  
Biological name :Ccm2
  
Synonyms : Ccm2 / Cerebral cavernous malformations / Q8K2Y9
  
Possible biological names infered from orthology : CCM2 scaffolding protein / Q9BSQ5
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: A1
Gene start: 6546887
Gene end: 6596744
  
Corresponding Affymetrix probe sets: 10374185 (MoGene1.0st)   1434648_a_at (Mouse Genome 430 2.0 Array)   1434649_at (Mouse Genome 430 2.0 Array)   1456290_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123790
Ensembl peptide - ENSMUSP00000105344
Ensembl peptide - ENSMUSP00000125072
Ensembl peptide - ENSMUSP00000125608
Ensembl peptide - ENSMUSP00000000388
Ensembl peptide - ENSMUSP00000105343
NCBI entrez gene - 216527     See in Manteia.
MGI - MGI:2384924
RefSeq - XM_006514622
RefSeq - NM_001190343
RefSeq - NM_001190344
RefSeq - NM_146014
RefSeq Peptide - NP_666126
RefSeq Peptide - NP_001177272
RefSeq Peptide - NP_001177273
swissprot - F7AVU1
swissprot - E0CYY2
swissprot - E0CZ84
swissprot - Q8K2Y9
swissprot - E0CXR5
Ensembl - ENSMUSG00000000378
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ccm2ENSDARG00000013705Danio rerio
 CCM2ENSGALG00000005612Gallus gallus
 CCM2ENSG00000136280Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ccm2l / Q8VCC6 / Cerebral cavernous malformations 2 protein-like / Q9NUG4* / CCM2 like scaffolding protein*ENSMUSG0000002747428


Protein motifs (from Interpro)
Interpro ID Name
 IPR006020  PTB/PI domain
 IPR011993  PH-like domain superfamily
 IPR026159  Cerebral cavernous malformations 2
 IPR032375  Cerebral cavernous malformations 2, harmonin-homology domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001885 endothelial cell development IMP
 biological_processGO:0001944 vasculature development IMP
 biological_processGO:0007507 heart development ISO
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0045216 cell-cell junction organization IMP
 biological_processGO:0048839 inner ear development IDA
 biological_processGO:0048845 venous blood vessel morphogenesis IMP
 biological_processGO:0060039 pericardium development IMP
 biological_processGO:0060837 blood vessel endothelial cell differentiation IMP
 biological_processGO:0061154 endothelial tube morphogenesis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Cd86tm1Shr/Cd86tm1Shr
Genetic Background: B6.129S4-Cd86tm1Shr

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Cd86tm1Shr/Cd86tm1Shr
Genetic Background: B6.129S4-Cd86tm1Shr

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Pax6m1Lsli/Pax6+
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Jam3tm1Rha/Jam3tm1.1Chav,Tg(Spo11-cre)D5Mpel/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0001633 poor circulation "insufficient movement of blood throughout the body" [MGI:cls, J:45302]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 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]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1.1Etl
Genetic Background: B6.129-Ccm2tm1.1Etl

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Pax6m1Lsli/Pax6+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1.1Etl
Genetic Background: B6.129-Ccm2tm1.1Etl

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Pax6m1Lsli/Pax6+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001916 intracerebral hemorrhage "bleeding within the cerebrum" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1Kwhi,Tg(Nes-cre)1Kln/?
Genetic Background: involves: C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 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]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 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: Ccm2tm1.1Etl/Ccm2tm1.1Etl
Genetic Background: B6.129-Ccm2tm1.1Etl

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Nes-cre)1Kln/0
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tagln-cre)1Jjl/0
Genetic Background: involves: FVB/N

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1Kwhi,Tg(Nes-cre)1Kln/?
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Ccm2Gt(RRG051)Byg/Ccm2+
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [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: Ccm2tm1Kwhi/Ccm2tm1Kwhi,Tg(Nes-cre)1Kln/?
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002582 disorganized extraembryonic tissue "a lack of the regular arrangement of the membranes involved with the embryo s protection and nutrition" [J:40596, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * 129P2/OlaHsd * 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: Jam3tm1Rha/Jam3tm1.1Chav,Tg(Spo11-cre)D5Mpel/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0003227 abnormal vascular branching morphogenesis "increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0003228 abnormal sinus venosus "malformation in the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

 MP:0003410 abnormal artery development "anomaly in the process of forming the blood vessels that carry blood away from the heart" [J:94740, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0003542 abnormal vascular endothelial cell development "malformation or aberrant differentiation of the cells that line the vasculature" [J:95387, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0003719 abnormal pericyte morphology "malformation in the connective tissue cells that occurs around capillaries or other small blood vessels " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1Kwhi,Tg(Nes-cre)1Kln/?
Genetic Background: involves: C57BL/6 * SJL

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0004068 dilated dorsal aorta "an expansion in the volume of the dorsal region of the main trunk of the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 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]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0004266 pale placenta "placenta lacking normal reddish coloration, often refers to bloodless condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0004783 abnormal cardinal vein morphology "any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

 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"]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0004938 dilated vasculature "stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

 MP:0004950 abnormal brain vasculature "any structural anomaly of the blood vessel network of the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Pdgfb-icre/ERT2)1Frut/?
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

 MP:0005167 abnormal blood-brain barrier "anomaly in the structure or function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
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Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Npas3tm1Ewb/Npas3tm1Ewb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006052 cerebellum hemorrhage "bleeding into the cerebellum" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

 MP:0006055 abnormal vascular endothelial cell morphology "malformation in the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl
Genetic Background: involves: 129

 MP:0006082 CNS inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
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Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1Kwhi,Tg(Nes-cre)1Kln/?
Genetic Background: involves: C57BL/6 * SJL

 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"]
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Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

 MP:0006338 abnormal second branchial arch morphology "anomaly in the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

 MP:0006339 abnormal third branchial arch morphology "anomaly in the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

 MP:0006356 abnormal third branchial arch artery morphology "any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0008725 enlarged heart atrium "increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation" [MESH:A07.541.358]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0008803 abnormal placental labyrinth vasculature morphology "any structural anomaly in blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0009577 abnormal developmental vascular remodeling "any anomaly in the process by which existing vessels are reorganized during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm2.1Sbn/Ccm2tm2.1Sbn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0010355 abnormal first branchial arch artery morphology "any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0010356 abnormal second branchial arch artery morphology "any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0010463 aorta stenosis "diffuse constriction or narrowing of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

 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: Apptm1Somm/Apptm1Somm
Genetic Background: C57BL/6-Apptm1Somm

Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1.1Etl
Genetic Background: B6.129-Ccm2tm1.1Etl

Allelic Composition: Ccm2tm1Etl/Ccm2tm1Etl,Tg(Tek-cre)1Ywa/0
Genetic Background: B6.Cg-Ccm2tm1Etl Tg(Tek-cre)1Ywa

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ccm2tm1.1Kwhi/Ccm2tm1.1Kwhi
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2tm1Kwhi/Ccm2tm1.1Kwhi,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * 129P2/OlaHsd * 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: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Ccm2tm1Mlkn/Ccm2+,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011514 skin hemorrhage "bleeding into the skin" [MGI:anna]
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Allelic Composition: Ccm2tm1.1Etl/Ccm2tm1Etl,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: 129 * C57BL/6

 MP:0012511 dilated aortic sac "abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates" [MGI:anna]
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Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2Gt(RRG051)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0030044 short forehead "an abnormally decreased height of the forehead" [MGI:anna]
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Allelic Composition: Ccm2tm1Sbn/Ccm2tm1Sbn
Genetic Background: involves: C57BL/6

  


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






 

0 s.

 
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