ENSMUSG00000032187


Mus musculus

Features
Gene ID: ENSMUSG00000032187
  
Biological name :Smarca4
  
Synonyms : Q3TKT4 / Smarca4 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  
Possible biological names infered from orthology : P51532
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: A3
Gene start: 21616169
Gene end: 21704230
  
Corresponding Affymetrix probe sets: 10583697 (MoGene1.0st)   1426804_at (Mouse Genome 430 2.0 Array)   1426805_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034707
Ensembl peptide - ENSMUSP00000096547
Ensembl peptide - ENSMUSP00000133535
Ensembl peptide - ENSMUSP00000133922
NCBI entrez gene - 20586     See in Manteia.
MGI - MGI:88192
RefSeq - XM_017313235
RefSeq - XM_011242436
RefSeq - XM_011242437
RefSeq - XM_011242438
RefSeq - XM_017313232
RefSeq - XM_017313233
RefSeq - XM_017313234
RefSeq - NM_001174078
RefSeq - NM_001174079
RefSeq - NM_011417
RefSeq - XM_006510117
RefSeq - XM_006510119
RefSeq - XM_006510120
RefSeq - XM_006510122
RefSeq - XM_011242434
RefSeq - XM_011242435
RefSeq Peptide - NP_035547
RefSeq Peptide - NP_001167549
RefSeq Peptide - NP_001167550
swissprot - G3UX35
swissprot - Q3TKT4
swissprot - A0A0R4J170
Ensembl - ENSMUSG00000032187
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SMARCA4ENSDARG00000104339Danio rerio
 smarca4aENSDARG00000077226Danio rerio
 P51532ENSG00000127616Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Smarca2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 / P51531*ENSMUSG0000002492175


Protein motifs (from Interpro)
Interpro ID Name
 IPR000330  SNF2-related, N-terminal domain
 IPR001487  Bromodomain
 IPR001650  Helicase, C-terminal
 IPR006576  BRK domain
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR014012  Helicase/SANT-associated domain
 IPR014978  Glutamine-Leucine-Glutamine, QLQ
 IPR018359  Bromodomain, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029295  Snf2, ATP coupling domain
 IPR030100  SWI/SNF complex subunit BRG1
 IPR036427  Bromodomain-like superfamily
 IPR037259  BRK domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0000902 cell morphogenesis IMP
 biological_processGO:0001188 RNA polymerase I transcriptional preinitiation complex assembly IEA
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001832 blastocyst growth IMP
 biological_processGO:0001835 blastocyst hatching IMP
 biological_processGO:0001889 liver development IMP
 biological_processGO:0003151 outflow tract morphogenesis IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0003407 neural retina development IEA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006334 nucleosome assembly TAS
 biological_processGO:0006337 nucleosome disassembly IEA
 biological_processGO:0006338 chromatin remodeling IEA
 biological_processGO:0006346 methylation-dependent chromatin silencing IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0007403 glial cell fate determination IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0010424 DNA methylation on cytosine within a CG sequence IMP
 biological_processGO:0019827 stem cell population maintenance IMP
 biological_processGO:0022008 neurogenesis IDA
 biological_processGO:0030177 positive regulation of Wnt signaling pathway IEA
 biological_processGO:0030198 extracellular matrix organization IMP
 biological_processGO:0030216 keratinocyte differentiation IMP
 biological_processGO:0030308 negative regulation of cell growth IEA
 biological_processGO:0030334 regulation of cell migration IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0030902 hindbrain development IMP
 biological_processGO:0035116 embryonic hindlimb morphogenesis IMP
 biological_processGO:0035887 aortic smooth muscle cell differentiation IMP
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0043044 ATP-dependent chromatin remodeling IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043388 positive regulation of DNA binding IGI
 biological_processGO:0043923 positive regulation by host of viral transcription IEA
 biological_processGO:0043966 histone H3 acetylation IMP
 biological_processGO:0045597 positive regulation of cell differentiation IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048562 embryonic organ morphogenesis IMP
 biological_processGO:0048730 epidermis morphogenesis IMP
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0060318 definitive erythrocyte differentiation IMP
 biological_processGO:0060347 heart trabecula formation IGI
 biological_processGO:0060766 negative regulation of androgen receptor signaling pathway IEA
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:0061626 pharyngeal arch artery morphogenesis IMP
 biological_processGO:0070307 lens fiber cell development IMP
 biological_processGO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IEA
 biological_processGO:1902661 positive regulation of glucose mediated signaling pathway IEA
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IEA
 cellular_componentGO:0000790 nuclear chromatin IEA
 cellular_componentGO:0000792 heterochromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005719 nuclear euchromatin IDA
 cellular_componentGO:0005726 perichromatin fibrils IDA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0016514 SWI/SNF complex IEA
 cellular_componentGO:0071564 npBAF complex IEA
 cellular_componentGO:0071565 nBAF complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IEA
 molecular_functionGO:0002039 p53 binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IEA
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016817 hydrolase activity, acting on acid anhydrides IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0030957 Tat protein binding IEA
 molecular_functionGO:0042393 histone binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0050681 androgen receptor binding IEA
 molecular_functionGO:0070182 DNA polymerase binding IEA
 molecular_functionGO:0070577 lysine-acetylated histone binding IEA


Pathways (from Reactome)
Pathway description
Interleukin-7 signaling
Formation of the beta-catenin:TCF transactivating complex
RMTs methylate histone arginines
Chromatin modifying enzymes
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
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Allelic Composition: Smarca4b2b692Clo/Smarca4b2b692Clo
Genetic Background: C57BL/6J-Smarca4b2b692Clo

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Ntrk1tm1.1Azmo/Ntrk1tm1.1Azmo
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Dnah5b2b1154Clo/Dnah5b2b1154Clo
Genetic Background: C57BL/6J-Dnah5b2b1154Clo

Allelic Composition: Smarca4b2b692Clo/Smarca4b2b692Clo
Genetic Background: C57BL/6J-Smarca4b2b692Clo

 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: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dnah5b2b1154Clo/Dnah5b2b1154Clo
Genetic Background: C57BL/6J-Dnah5b2b1154Clo

 MP:0000462 abnormal digestive system morphology "anomalous structure of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
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Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000538 abnormal urinary bladder morphology "malformation of the inflatable musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 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: Hopxtm1.1Joe/Hopxtm1.1Joe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000714 increased thymocyte number "greater than expected number of precursors to T cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: Not Specified

 MP:0000715 decreased thymocyte number "fewer than expected number of precursors to T cells; these cells are lymphoid cells found in the thymus " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Inpp5dtm1Wgk/Inpp5dtm1Wgk,Tg(Mx1-cre)1Cgn/0
Genetic Background: B6.Cg-Inpp5dtm1Wgk Tg(Mx1-cre)1Cgn

Allelic Composition: Smarca4tm1Tich/Smarca4+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

 MP:0000727 absent CD4-8+ cells "lack of the set of single-positive T cells that express CD8 on their surface" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000740 impaired smooth muscle contractility "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Vangl1Gt(XL802)Byg/Vangl1Gt(XL802)Byg,Vangl2tm1.2Yy/Vangl2tm1.2Yy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0001196 shiny skin "skin with a glossy or glistening appearance" [J:56641]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0001237 enlarged spinous cells "increased size of the cells of the spinous layer of the epidermis" [J:47225]
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Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0001239 abnormal granular layer morphology "structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0001240 abnormal cornified layer morphology "structural or developmental anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Dnah5b2b1154Clo/Dnah5b2b1154Clo
Genetic Background: C57BL/6J-Dnah5b2b1154Clo

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0001676 abnormal apical ectodermal ridge "malformation of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001825 arrested T cell development "failure of T cell formation to proceed past a defined stage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Mag,Tg(Lck-cre)1Cwi/?,Tg(LCKprBCL2)36Sjk/?
Genetic Background: involves: 129S/Sv * C57BL/6 * DBA/2

 MP:0001883 mammary adenocarcinoma "higher than normal incidence of malignant tumors of the mammary gland" [J:62919]
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Allelic Composition: Smg6tm1.1Zqw/Smg6tm1.1Zqw,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

 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: Vangl1Gt(XL802)Byg/Vangl1Gt(XL802)Byg,Vangl2tm1.2Yy/Vangl2tm1.2Yy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ntrk1tm1.1Azmo/Ntrk1tm1.1Azmo
Genetic Background: involves: 129S2/SvPas

 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: ApcMin/Apc+
Genetic Background: (MA/MyJ x C57BL/6J-ApcMin)F1

 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: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.1Pcn/Smarca4+
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0002145 abnormal T lymphocyte development "atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Myo1gtm1.2Mfk/Myo1gtm1.2Mfk,Tg(TcraTcrb)1100Mjb/0
Genetic Background: involves: C57BL/6 * FVB/N * SJL

Allelic Composition: Smarca4tm1.1Grc/Smarca4tm1.1Grc
Genetic Background: involves: 129 * C57BL/6

 MP:0002295 abnormal pulmonary circulation "anomalous circulation of blood through the lungs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: Hopxtm1.1Joe/Hopxtm1.1Joe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002447 abnormal erythrocyte morphology "structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hopxtm1.1Joe/Hopxtm1.1Joe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Dnah5b2b1154Clo/Dnah5b2b1154Clo
Genetic Background: C57BL/6J-Dnah5b2b1154Clo

 MP:0002731 megacolon "extreme dilation of the colon" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:40722]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0002746 abnormal semilunar valve morphology "malformation of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82728]
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Allelic Composition: Ntrk1tm1.1Azmo/Ntrk1tm1.1Azmo
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0002747 abnormal aortic valve morphology "malformation of the valve between the left ventricle and the ascending aorta" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(KRT14-cre/ERT2)1Ipc/?
Genetic Background: involves: 129S2/SvPas

 MP:0003139 patent ductus arteriosus "failure of the fetal connection between the aorta and pulmonary artery to close within 24 hours after birth" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0003667 hemangiosarcoma "a malignant tumor characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and appear as irregular blood-filled or lumpy sacs that are typically filled with blood; rupture of the tumor can cause rapid death from bleeding" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:53511]
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Allelic Composition: Rb1tm1Tyj/Rb1+,Smarca4tm1Mag/Smarca4+
Genetic Background: involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1

 MP:0003789 osteosarcoma "malignant neoplasm derived from bone" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smg6tm1.1Zqw/Smg6tm1.1Zqw,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

 MP:0003800 monodactyly "having only one toe or digit on each extremity" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0003853 dry skin "skin characterized by the lack of natural or normal moisture" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0003857 abnormal hindlimb zeugopod morphology 
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Allelic Composition: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0004002 abnormal jejunum morphology "malformation of the portion of the small intestine that extends from the duodenum to the ileum" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0004111 abnormal coronary artery morphology "anomaly of any of the arteries that branch from the aorta to supply blood to the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0004937 dilated heart "stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0005089 decreased double-negative T cell count "reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0
Genetic Background: Not Specified

Allelic Composition: Smarca4tm1Tich/Smarca4+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

 MP:0005090 increased double-negative T cells count "greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: Not Specified

 MP:0005092 decreased double-positive T cell count "less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: Not Specified

Allelic Composition: Smarca4tm1Tich/Smarca4+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
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Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0008037 abnormal T cell morphology "any structural anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1Tich,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: involves: 129/Sv

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0
Genetic Background: Not Specified

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.2Pcn,Tg(Lck-cre)1Cwi/0,Tg(LCKprBCL2L1)12Sjk/0
Genetic Background: Not Specified

 MP:0008075 decreased CD4-positive T cell number "reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfaptm1Pkny/Gfaptm1Pkny
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008083 decreased single-positive T cell number "reduced number of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1Tich/Smarca4+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129/Sv

 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: Vangl1Gt(XL802)Byg/Vangl1Gt(XL802)Byg,Vangl2tm1.2Yy/Vangl2tm1.2Yy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0008802 abnormal intestinal smooth muscle morphology "any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0009476 enlarged cecum "increased size of the large sac at the ileum and large intestine junction" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0009483 enlarged ileum "increased size of the portion of the small intestine that extends from the jejunum to the colon" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0010299 increased mammary gland tumor incidence "greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rb1tm1Tyj/Rb1+,Smarca4tm1Mag/Smarca4+
Genetic Background: involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1

 MP:0010320 increased pituitary gland tumor incidence "greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rb1tm1Tyj/Rb1+,Smarca4tm1Mag/Smarca4+
Genetic Background: involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Notch1tm2Rko/Notch1tm3(cre)Rko
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca4b2b508.1Clo/Smarca4b2b508.1Clo
Genetic Background: C57BL/6J-Smarca4b2b508.1Clo

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Smarca4b2b508.1Clo/Smarca4b2b508.1Clo
Genetic Background: C57BL/6J-Smarca4b2b508.1Clo

 MP:0010413 complete atrioventricular septal defect "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]
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Allelic Composition: Smarca4b2b508.1Clo/Smarca4b2b508.1Clo
Genetic Background: C57BL/6J-Smarca4b2b508.1Clo

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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Allelic Composition: Smarca4b2b692Clo/Smarca4b2b692Clo
Genetic Background: C57BL/6J-Smarca4b2b692Clo

Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
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Allelic Composition: Smarca4b2b692Clo/Smarca4b2b692Clo
Genetic Background: C57BL/6J-Smarca4b2b692Clo

 MP:0010453 abnormal coronary vein morphology "any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010482 abnormal aortic sinus morphology "any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise)" [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: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010484 bicuspid aortic valve "the presence of two cusps in the aortic valve instead of three" [http://emedicine.medscape.com]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010593 thick aortic valve cusps "an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010594 thick aortic valve "an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010595 abnormal aortic valve cusp morphology "any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010601 thick pulmonary valve "an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Nfatc1tm1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010602 abnormal pulmonary valve cusp morphology "any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010656 thick myocardium "increased thickness of the heart muscle layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0010819 primary atelectasis "nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0010998 pulmonary alveolar proteinosis "abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 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: Smarca2tm1Mya/Smarca2tm1Mya,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * 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: Vangl1Gt(XL802)Byg/Vangl1Gt(XL802)Byg,Vangl2tm1.2Yy/Vangl2tm1.2Yy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 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: Jmjd6tm1.1Gbf/Jmjd6tm1.1Gbf
Genetic Background: C57BL/6-Jmjd6tm1.1Gbf

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Vangl1Gt(XL802)Byg/Vangl1Gt(XL802)Byg,Vangl2tm1.2Yy/Vangl2tm1.2Yy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Hopxtm1.1Joe/Hopxtm1.1Joe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011109 partial lethality throughout fetal growth and development "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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011648 thick heart valve cusps "an increase in the heart cusp wall thickness" [MGI:csmith]
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Allelic Composition: Nfatc1tm1.1(cre)Bz/Nfatc1+,Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011684 coronary-cameral fistula to right ventricle "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle" [MGI:csmith]
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Allelic Composition: Smarca4b2b692Clo/Smarca4b2b692Clo
Genetic Background: C57BL/6J-Smarca4b2b692Clo

 MP:0013956 decreased colon length "reduced length of the portion of the large intestine between the cecum and the rectum" [ISBN:0683400088]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0013958 decreased small intestine length "reduced length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum" [ISBN:0683400088]
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Allelic Composition: Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Smarca2tm1Mya/Smarca2+,Smarca4tm1.2Pcn/Smarca4tm1.1Pcn,Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006932 Ctnnb1 / Q02248 / Catenin beta-1 / P35222*  / reaction / 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
 ENSMUSG00000021611 Tert / O70372 / telomerase reverse transcriptase / O14746*  / complex / reaction
 ENSMUSG00000027985 Lef1 / P27782 / Lymphoid enhancer-binding factor 1 / Q9UJU2*  / complex / reaction
 ENSMUSG00000024985 Q924A0 / Tcf7l2 / transcription factor 7 like 2, T cell specific, HMG box / Q9NQB0* / transcription factor 7 like 2*  / reaction / complex
 ENSMUSG00000032481 P97496 / Smarcc1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 / Q92922*  / complex
 ENSMUSG00000000902 Q9Z0H3 / Smarcb1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 / Q12824*  / complex
 ENSMUSG00000025369 Q6PDG5 / Smarcc2 / SWI/SNF complex subunit SMARCC2 / Q8TAQ2* / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2*  / complex
 ENSMUSG00000022914 Brwd1 / Q921C3 / Bromodomain and WD repeat-containing protein 1 / Q9NSI6* / bromodomain and WD repeat domain containing 1*  / complex / reaction
 ENSMUSG00000031885 Cbfb / Q08024 / Core-binding factor subunit beta / Q13951* / core-binding factor beta subunit*  / reaction / complex






 

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