ENSMUSG00000025231


Mus musculus

Features
Gene ID: ENSMUSG00000025231
  
Biological name :Sufu
  
Synonyms : Q9Z0P7 / Sufu / SUFU negative regulator of hedgehog signaling
  
Possible biological names infered from orthology : Q9UMX1
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: C3
Gene start: 46396896
Gene end: 46488804
  
Corresponding Affymetrix probe sets: 10463645 (MoGene1.0st)   1420848_at (Mouse Genome 430 2.0 Array)   1431713_at (Mouse Genome 430 2.0 Array)   1450024_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000112653
Ensembl peptide - ENSMUSP00000113073
Ensembl peptide - ENSMUSP00000049109
Ensembl peptide - ENSMUSP00000107498
NCBI entrez gene - 24069     See in Manteia.
MGI - MGI:1345643
RefSeq - NM_001025391
RefSeq - NM_015752
RefSeq Peptide - NP_001020562
RefSeq Peptide - NP_056567
swissprot - Q9Z0P7
swissprot - A0A0R4J1M0
swissprot - Q3U0Z8
swissprot - D3Z7B6
Ensembl - ENSMUSG00000025231
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sufuENSDARG00000056801Danio rerio
 SUFUENSGALG00000008096Gallus gallus
 SUFUENSG00000107882Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR007768  Suppressor of fused
 IPR016591  Suppressor of fused, eukaryotic
 IPR020941  Suppressor of fused-like domain
 IPR024314  Suppressor of fused C-terminal
 IPR037181  Suppressor of fused, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0021513 spinal cord dorsal/ventral patterning IMP
 biological_processGO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification IMP
 biological_processGO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IMP
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor IGI
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IBA
 biological_processGO:0043588 skin development IMP
 biological_processGO:0045879 negative regulation of smoothened signaling pathway IMP
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IMP
 biological_processGO:2000059 negative regulation of ubiquitin-dependent protein catabolic process IGI
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005929 cilium IDA
 molecular_functionGO:0003714 transcription corepressor activity IBA
 molecular_functionGO:0004871 obsolete signal transducer activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008013 beta-catenin binding IDA
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
Degradation of GLI1 by the proteasome
GLI3 is processed to GLI3R by the proteasome
Hedgehog off state
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0000470 abnormal stomach morphology "malformation of the sac-like structure of the digestive canal between the esophagus and the small intestine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Spata22tm1b(KOMP)Wtsi/Spata22tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Spata22tm1b(KOMP)Wtsi/Ucd

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 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: Spata22tm1b(KOMP)Wtsi/Spata22tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Spata22tm1b(KOMP)Wtsi/Ucd

 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: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Sufurgsc02075/Sufurgsc02075
Genetic Background: either: B6JJcl(C3JJcl)-Sufurgsc02075 or B6JJcl(D2JJcl)-Sufurgsc02075

 MP:0000925 abnormal floor plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pigatm1.1Tak/Piga+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0001231 abnormal basal cell layer morphology "structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0001704 abnormal dorsal-ventral axis patterning "anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0002036 rhabdomyosarcoma "malignant tumor derived from skeletal (striated) muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: SufuGt(XB699)Byg/Sufu+,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: SufuGt(XB699)Byg/Sufu+,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pigatm1.1Tak/Piga+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Sufutm1.1Blnw/Sufutm1.1Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CD-1 * FVB/N

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Spata22tm1b(KOMP)Wtsi/Spata22tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Spata22tm1b(KOMP)Wtsi/Ucd

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0002970 abnormal white fat morphology "structural aberration in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0003864 abnormal midbrain development "anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo" [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: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0004086 absent heartbeat "lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)" [J:69362, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Sufurgsc02075/Sufurgsc02075
Genetic Background: either: B6JJcl(C3JJcl)-Sufurgsc02075 or B6JJcl(D2JJcl)-Sufurgsc02075

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0004258 abnormal placenta size "anomaly in the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0004848 abnormal liver size "anomaly in the average size of the liver " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0005650 abnormal limb bud morphology "aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0005670 abnormal white fat physiology "functional aberration in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0006283 medulloblastoma "a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin " [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: SufuGt(XB699)Byg/Sufu+,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0008844 decreased subcutaneous adipose tissue amount "reduction in amount of adipose tissue beneath the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0009117 abnormal white fat cell morphology "any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole" [MESH:A11.329.114.500]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0009131 decreased white fat cell number "reduction in the number of fat cells with light coloration and few mitochondria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0009133 decreased white fat cell size "reduction in the size of fat cells with light coloration and few mitochondria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1(cre)Itl/Fgf8+
Genetic Background: Not Specified

 MP:0009931 abnormal skin appearance "skin that looks different from the usual state" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 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: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0010473 descending aorta dilation "widening or enlargment of the lumen of the descending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 MP:0010476 coronary fistula "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula)" [http://emedicine.medscape.com]
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Allelic Composition: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * C57BL/6

 MP:0010479 brain aneurysm "a protruding sac within the brain formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall" [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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(T-cre)1Lwd/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

Allelic Composition: Sufutm1Rto/Sufutm1Rto
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: SufuGt(XB699)Byg/SufuGt(XB699)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Sufutm1.1Blnw/Sufutm1.1Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CD-1 * FVB/N

Allelic Composition: Sufurgsc02075/Sufurgsc02075
Genetic Background: either: B6JJcl(C3JJcl)-Sufurgsc02075 or B6JJcl(D2JJcl)-Sufurgsc02075

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+,Pax3Sp/Pax3+,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

 MP:0011495 abnormal head shape "any anomaly in the characteristic surface outline or contour of a head of an organism" [MGI:csmith]
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Allelic Composition: Cigs2tm1.1Anse/Cigs2+,Il4tm1(CD2)Mmrs/Il4+
Genetic Background: involves: 129 * BALB/cJ * 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: SufuGt(XB699)Byg/Sufu+,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000005469 P05132 / Prkaca / protein kinase, cAMP dependent, catalytic, alpha / P17612* / protein kinase cAMP-activated catalytic subunit alpha*  / reaction
 ENSMUSG00000005034 P68181 / Prkacb / protein kinase, cAMP dependent, catalytic, beta / P22694* / protein kinase cAMP-activated catalytic subunit beta*  / reaction
 ENSMUSG00000025407 Gli1 / P47806 / Zinc finger protein GLI1 / P08151* / GLI family zinc finger 1*  / complex / reaction
 ENSMUSG00000022812 Gsk3b / Q9WV60 / glycogen synthase kinase 3 beta / P49841*  / reaction
 ENSMUSG00000021224 Numb / Q9QZS3 / NUMB, endocytic adaptor protein / P49757*  / complex / reaction
 ENSMUSG00000027598 Itch / Q8C863 / E3 ubiquitin-protein ligase Itchy / Q96J02* / itchy E3 ubiquitin protein ligase*  / complex / reaction
 ENSMUSG00000021318 Gli3 / Q61602 / Transcriptional activator GLI3 Transcriptional repressor GLI3R / P10071* / GLI family zinc finger 3*  / complex / reaction
 ENSMUSG00000048402 Gli2 / Q0VGT2 / Zinc finger protein GLI2 / P10070* / GLI family zinc finger 2*  / reaction / complex
 ENSMUSG00000032308 Ulk3 / Q3U3Q1 / unc-51-like kinase 3 / Q6PHR2*  / complex
 ENSMUSG00000024576 Q8BK63 / Csnk1a1 / casein kinase 1, alpha 1 / P48729*  / reaction






 

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