ENSMUSG00000027547


Mus musculus

Features
Gene ID: ENSMUSG00000027547
  
Biological name :Sall4
  
Synonyms : Q8BX22 / Sall4 / Sal-like protein 4
  
Possible biological names infered from orthology : Q9UJQ4 / spalt like transcription factor 4
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: H3
Gene start: 168748332
Gene end: 168767943
  
Corresponding Affymetrix probe sets: 10490016 (MoGene1.0st)   1424152_at (Mouse Genome 430 2.0 Array)   1424153_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000115646
Ensembl peptide - ENSMUSP00000119628
Ensembl peptide - ENSMUSP00000029061
Ensembl peptide - ENSMUSP00000074556
Ensembl peptide - ENSMUSP00000099363
NCBI entrez gene - 99377     See in Manteia.
MGI - MGI:2139360
RefSeq - NM_201396
RefSeq - XM_006500486
RefSeq - NM_175303
RefSeq - NM_201395
RefSeq Peptide - NP_780512
RefSeq Peptide - NP_958797
RefSeq Peptide - NP_958798
swissprot - A2AUZ6
swissprot - A2AUZ7
swissprot - Q8BX22
Ensembl - ENSMUSG00000027547
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sall4ENSDARG00000044485Danio rerio
 SALL4ENSGALG00000041365Gallus gallus
 SALL4ENSG00000101115Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sall3 / Q62255 / Sal-like protein 3 / Q9BXA9* / spalt like transcription factor 3*ENSMUSG0000002456543
Sall1 / spalt like transcription factor 1 / Q9NSC2*ENSMUSG0000003166540
Sall2 / Q9QX96 / Sal-like protein 2 / Q9Y467* / spalt like transcription factor 2*ENSMUSG0000004953223


Protein motifs (from Interpro)
Interpro ID Name
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR013087  Zinc finger C2H2-type
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001833 inner cell mass cell proliferation IMP
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007165 signal transduction IBA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0009888 tissue development IMP
 biological_processGO:0019827 stem cell population maintenance IMP
 biological_processGO:0021915 neural tube development IGI
 biological_processGO:0022008 neurogenesis IBA
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 cellular_componentGO:0000792 heterochromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005667 transcription factor complex IC
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IBA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Regulation of PTEN gene transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000049 abnormal middle ear morphology "malformation or malfunction of any components of the tympanic cavity or its ossicles" [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: Sall4tm1Brd/Sall4tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: H2afxtm1Fwa/H2afx+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Sall1tm4.1Ryn/Sall1tm4.1Ryn,Sall4tm3Ryn/Sall4tm4Ryn
Genetic Background: involves: 129P2/OlaHsd

 MP:0000492 abnormal rectum morphology "structural aberration in the terminal portion of the intestinal tube adjacent to the anus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0000554 abnormal carpal bone morphology "malformation of the nine nodular bones of the joint between the forelimb bones and the front paws consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Anatomy of the Rat:Greene, EC, Hafner Publishing Co, 1935]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
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Allelic Composition: Sall4tm1Ryn/Sall4tm1Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Ephb2tm1Paw/Ephb2tm1Paw
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: Dock1tm1Jfco/Dock1+,Dock5Gt(AN0268)Wtsi/Dock5Gt(AN0268)Wtsi
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Sall1tm1Jkoh/Sall1tm1Jkoh,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Sall2tm1Jkoh/Sall2+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Allelic Composition: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001048 absent enteric neurons "missing neurons that innervate the esophagus, stomach, small and large bowel" [Principles of Neural Science:ISBN 0-8385-8034-3, J:49471]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001485 abnormal pinna reflex "failure to respond to an auditory stimulus by a characteristic ear twitch " [J:64900]
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Allelic Composition: Sall4tm1Brd/Sall4tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001694 failure to form egg cylinders "inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure" [The Atlas of Mouse Development , Revised edition:ISBN 0-12-402035-6, MGI:cls, J:34458]
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Allelic Composition: H2afxtm1Fwa/H2afx+
Genetic Background: involves: 129S6/SvEvTac

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sall4Gt(RRC044)Byg/Sall4Gt(RRC044)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001714 absent trophoblast cells "missing cells of the extraembryonic cell layer that contribute to the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Sall4tm1Tre/Sall4tm1Tre
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Sall4tm2Tre/Sall4tm2.1Tre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * CD-1

Allelic Composition: Sall4Gt(RRC044)Byg/Sall4Gt(RRC044)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001849 ear inflammation "local accumulation of fluid, plasma proteins and leukocytes in the ear" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001850 otitis media "middle ear inflammation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4tm1Brd/Sall4tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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: Sall4tm1Ryn/Sall4tm1Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm1Bili/Sall4+
Genetic Background: Not Specified

Allelic Composition: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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: Sall4Gt(RRC044)Byg/Sall4Gt(RRC044)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fkbp4tm1Shou/Fkbp4tm1Shou
Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J)

Allelic Composition: Sall4tm2Ryn/Sall4tm2Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4tm1Brd/Sall4tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002190 disorganized myocardium "malformed or poorly developed cardiac muscle layers" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67044]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002718 abnormal inner cell mass "malformed or absent cells of the blastocyst that develop into the body of the embryo" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fkbp4tm1Shou/Fkbp4tm1Shou
Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * C57BL/6J)

Allelic Composition: Sall4tm2Ryn/Sall4tm2Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0003129 persistent cloaca "the presence of a single external opening to which the urinary, digestive and reproductive tracts all connect" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003130 anal atresia "absence of a connection between the anal pit and the rectum" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003315 abnormal perineum morphology "malformation in the area between the genital organs and the anus that lies beneath the pelvic diaphragm" [ncbi:Matthew Mailman, NCBI request, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003446 renal hypoplasia "decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003604 single kidney 
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003695 delayed hatching from the zona pellucida "the embryo takes longer than normal 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: H2afxtm1Fwa/H2afx+
Genetic Background: involves: 129S6/SvEvTac

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003886 abnormal embryonic epiblast morphology "anomaly in the development/organization of the tissue that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Gbatm1.1Clk/Gbatm1.1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Ctnnb1tm2.1Kem/Ctnnb1+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

Allelic Composition: Sall1tm1Jkoh/Sall1tm1Jkoh,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0004032 abnormal interventricular groove "malformation of the intendation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0004638 elongated metacarpal bones "increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0004739 conductive hearing loss "progressive hearing loss due to lesions in the external auditory canal or middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0004838 abnormal neural fold elevation formation "any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ephb2tm1Paw/Ephb2tm1Paw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005034 abnormal anus morphology "structural anomaly of the lower opening of the digestive tract" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: H2afxtm1Fwa/H2afx+
Genetic Background: involves: 129S6/SvEvTac

 MP:0006207 embryonic lethality during organogenesis "death anytime after embryo turning but before the completion of organogenesis (E9 to less than E14)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0009052 anal stenosis "abnormal narrowing or constriction of the anal orifice" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0009053 abnormal anal canal morphology "any structural abnormality in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0009098 anovaginal fistula "an abnormal anatomical passage that connects the anal canal and the vagina" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0009266 abnormal mesendoderm development "failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0009331 absent primitive node "absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * 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: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * 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: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0010432 common ventricle "the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Sall1tm2Ryn/Sall1+,Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Ephb2tm1Paw/Ephb2tm1Paw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Sall2tm1Jkoh/Sall2+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 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: Sall4tm2Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm1Bili/Sall4tm1Bili
Genetic Background: Not Specified

 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: Sall1tm4.1Ryn/Sall1tm4.1Ryn,Sall4tm3Ryn/Sall4tm4Ryn
Genetic Background: involves: 129P2/OlaHsd

 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: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Sall4tm1Tre/Sall4tm1Tre
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

Allelic Composition: Sall4tm2Tre/Sall4tm2.1Tre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * CD-1

Allelic Composition: Sall4tm1Tre/Sall4tm2.1Tre
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

Allelic Composition: Sall4tm2.1Tre/Sall4tm2.1Tre
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

Allelic Composition: Sall4tm1Brd/Sall4tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Sall4tm1Ryn/Sall4tm1Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm2Ryn/Sall4tm2Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4Gt(RRC044)Byg/Sall4Gt(RRC044)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Sall4tm1Yam/Sall4tm1Yam
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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: Sall1tm1Jkoh/Sall1tm1Jkoh,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 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: Ctnnb1tm2.1Kem/Ctnnb1+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * 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: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

Allelic Composition: Sall4tm1Ryn/Sall4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall1tm1Jkoh/Sall1+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Sall4tm1Yam/Sall4+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0011183 abnormal primitive endoderm morphology "any structural anomaly of the monolayer of cells derived from and located on the surface of inner cell mass, directly facing the blastocoele, and is separated from the more centrally located epiblast by basal lamina; the primitive endoderm give rises to the visceral endoderm and the parietal endoderm" [PMID:21123814]
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Allelic Composition: Sall4tm1Yam/Sall4tm1Yam
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0011189 small embryonic epiblast "reduced size of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814]
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Allelic Composition: Sall4Gt(W097E01)Flo/Sall4Gt(W097E01)Flo
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0012113 decreased inner cell mass proliferation 
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Allelic Composition: Sall4tm1Ryn/Sall4tm1Ryn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sall4tm1Yam/Sall4tm1Yam
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012701 increased embryonic neuroepithelium apoptosis "increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Sall2tm1Jkoh/Sall2tm1Jkoh,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J

 MP:0012739 abnormal anterior primitive streak morphology "any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node" [MGI:anna]
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Allelic Composition: Ctnnb1tm2.1Kem/Ctnnb1+,Sall4Gt(W097E01)Flo/Sall4+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0013167 abnormal hindlimb bud morphology "any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]
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Allelic Composition: Notch2tm3.1Grid/Notch2tm3.1Grid
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0030410 middle ear effusion "fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube" [https://www.medscape.org/viewarticle/730698, PMID:1267372]
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Allelic Composition: Sall4tm1Brd/Sall4+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

  


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






 

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