ENSMUSG00000000902


Mus musculus

Features
Gene ID: ENSMUSG00000000902
  
Biological name :Smarcb1
  
Synonyms : Q9Z0H3 / Smarcb1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  
Possible biological names infered from orthology : Q12824
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: C1
Gene start: 75896769
Gene end: 75921617
  
Corresponding Affymetrix probe sets: 10370025 (MoGene1.0st)   1416045_a_at (Mouse Genome 430 2.0 Array)   1435856_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123093
Ensembl peptide - ENSMUSP00000000925
Ensembl peptide - ENSMUSP00000112463
Ensembl peptide - ENSMUSP00000115388
NCBI entrez gene - 20587     See in Manteia.
MGI - MGI:1328366
RefSeq - NM_001161853
RefSeq - NM_011418
RefSeq Peptide - NP_035548
RefSeq Peptide - NP_001155325
swissprot - F6U415
swissprot - Q9Z0H3
swissprot - D6RDC4
swissprot - Q3UDA4
swissprot - Q6ZWP4
Ensembl - ENSMUSG00000000902
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q5U379ENSDARG00000033647Danio rerio
 smarcb1bENSDARG00000011594Danio rerio
 Q5ZK40ENSGALG00000005983Gallus gallus
 Q12824ENSG00000099956Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006939  SNF5/SMARCB1/INI1
 IPR017393  Chromatin-remodeling complex component Sfh1/SNF5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001188 RNA polymerase I transcriptional preinitiation complex assembly IEA
 biological_processGO:0001824 blastocyst development IMP
 biological_processGO:0001835 blastocyst hatching IMP
 biological_processGO:0006281 DNA repair IBA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006337 nucleosome disassembly IBA
 biological_processGO:0006338 chromatin remodeling ISO
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IBA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0030154 cell differentiation IMP
 biological_processGO:0039692 single stranded viral RNA replication via double stranded DNA intermediate ISO
 biological_processGO:0043044 ATP-dependent chromatin remodeling IBA
 biological_processGO:0043923 positive regulation by host of viral transcription ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity ISO
 biological_processGO:0090240 positive regulation of histone H4 acetylation ISO
 biological_processGO:1900110 negative regulation of histone H3-K9 dimethylation ISO
 biological_processGO:1900113 negative regulation of histone H3-K9 trimethylation ISO
 biological_processGO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I ISO
 biological_processGO:1902661 positive regulation of glucose mediated signaling pathway ISO
 biological_processGO:2000617 positive regulation of histone H3-K9 acetylation ISO
 cellular_componentGO:0000228 nuclear chromosome IEA
 cellular_componentGO:0001650 fibrillar center ISO
 cellular_componentGO:0001741 XY body IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0016514 SWI/SNF complex ISO
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:0071564 npBAF complex IDA
 cellular_componentGO:0071565 nBAF complex IDA
 molecular_functionGO:0001164 RNA polymerase I CORE element sequence-specific DNA binding ISO
 molecular_functionGO:0002039 p53 binding ISO
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003713 transcription coactivator activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030957 Tat protein binding ISO


Pathways (from Reactome)
Pathway description
RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0000465 gastrointestinal hemorrhage "bleeding in the stomach and/or the intestines" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0000608 dissociated hepatocytes "disorganization of cohesive hepatocyte structure" [J:23170]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [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: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0000872 abnormal external granule cell layer "malformation of the transient layer of the cerebellar cortex which is composed of the dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001412 excessive scratching "compulsive scraping of the skin, usually with the nails" [J:61340]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Smarcb1tm2Sho/Smarcb1+,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0001728 failure of implantation "inability of the blastocyst to attach to the endometrium of the uterus" [J:38772]
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0002018 malignant tumors "higher than normal incidence of locally invasive, destructive and metastatic tumors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:44427]
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Allelic Composition: Mecp2tm3Meg/Y
Genetic Background: B6.129-Mecp2tm3Meg

Allelic Composition: Smarcb1tm1Sho/Smarcb1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * DBA/2J

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smarcb1tm1Sho/Smarcb1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0002024 T cell derived lymphoma "group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002038 carcinoma "malignant neoplasm arising from epithelial cells, usually glandular or squamous" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Mecp2tm3Meg/Y
Genetic Background: B6.129-Mecp2tm3Meg

 MP:0002052 decreased tumor incidence "less than the expected number of abnormal growths in a specific population" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J

 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53+,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 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: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

Allelic Composition: Smarcb1tm1Sho/Smarcb1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * DBA/2J

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [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: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0002339 abnormal lymph node morphology "anomalous structure, size, or celluarity of the oval or bean shaped bodies located along the lymphatic system" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0002398 abnormal bone marrow cell morphology/development "anomalous structure or formation of the cells found in the bone marrow" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0002429 abnormal blood cell morphology/development "anomalous structure, differentiation, or number of any of the cells found in the blood" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0002715 reduced glycogen catabolism rate "decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0003383 abnormal gluconeogenesis "anomaly in the formation of glucose from noncarbohydrates, such as proteins or fat" [J:93896]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0003694 failure to hatch from the zona pellucida "the embryo fails to break out of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, may be seen in vivo or in cultured embryos" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6J * SJL/J

 MP:0003893 increased hepatocyte proliferation "anomalous growth and reproduction of hepatocyte cells of the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0004263 abnormal limb posture "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0005011 increased eosinophil count "greater than normal eosinophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0005152 pancytopenia "reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:20450]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0005323 dystonia "impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0005439 decreased glycogen level "less than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0008018 facial tumor "presence of abnormal, rapidly proliferating cells on the face usually in the form of a distinct mass " [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

 MP:0008021 blastoma "a fast growing and invasive tumor composed chiefly or entirely of immature undifferentiated cells that have embryonic characteristics resembling the primordium of the organ in which the tumor arose" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53+,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0008762 embryonic lethality "death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0009275 bruising "an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Nogtm1Amc/Nogtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J * ICR

 MP:0009277 brain tumor "presence of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass" [MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm1Gvk/Smarcb1+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0009808 reduced oligodendrocyte number "significantly fewer than the expected number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS are present" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0009956 abnormal cerebellar layer morphology "any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0009977 abnormal cerebellar granule cell migration "defective or impaired movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum during development of the cerebellar cortex" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

 MP:0010380 inner cell mass apoptosis "the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010391 increased rhabdomyoma incidence "greater than the expected number of a benign neoplasm derived from striated muscle and comprised of an encapsulated mass of polygonal cells, occurring in a specific population in a given time period" [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: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Nos3tm1Unc/Nos3tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 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: Men1tm1.2Ctre/Men1+,Tg(Ins2-cre)25Mgn/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0011093 complete embryonic lethality at implantation "death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)" [MGI:csmith]
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * 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: Smarcb1tm2Sho/Smarcb1tm2Sho,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0012114 absent inner cell mass proliferation 
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012118 absent trophectoderm cell proliferation 
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Allelic Composition: Nfkb1tm1Bal/Nfkb1tm1Bal,Nfkbiatm1Bal/Nfkbiatm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012119 increased trophectoderm apoptosis "increase in the number of trophectoderm cells undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Smarcb1tm1Mya/Smarcb1tm1Mya
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
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Allelic Composition: Smarcb1tm1Sho/Smarcb1tm3Sho,Tg(Mx1-cre)1Cgn/?
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA

 MP:0012690 abnormal stride length "abnormal average distance between steps" [MPD:Molly]
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Allelic Composition: Smarcb1tm2Sho/Smarcb1tm2Sho,Trp53tm1Brn/Trp53tm1Brn,Tg(GFAP-cre)#Gtm/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032481 P97496 / Smarcc1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 / Q92922*  / complex
 ENSMUSG00000000561 Wdr77 / Q99J09 / WD repeat domain 77 / Q9BQA1*  / complex / reaction
 ENSMUSG00000023110 Prmt5 / protein arginine N-methyltransferase 5 / O14744* / protein arginine methyltransferase 5*  / complex / reaction
 ENSMUSG00000025369 Q6PDG5 / Smarcc2 / SWI/SNF complex subunit SMARCC2 / Q8TAQ2* / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2*  / complex
 ENSMUSG00000032187 Q3TKT4 / Smarca4 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 / P51532*  / complex
 ENSMUSG00000031885 Cbfb / Q08024 / Core-binding factor subunit beta / Q13951* / core-binding factor beta subunit*  / reaction / complex






 

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