ENSMUSG00000031540


Mus musculus

Features
Gene ID: ENSMUSG00000031540
  
Biological name :Kat6a
  
Synonyms : Kat6a / lysine acetyltransferase 6A
  
Possible biological names infered from orthology : Q92794
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: A2
Gene start: 22859535
Gene end: 22943259
  
Corresponding Affymetrix probe sets: 10570875 (MoGene1.0st)   1436315_at (Mouse Genome 430 2.0 Array)   1437487_at (Mouse Genome 430 2.0 Array)   1446405_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000038181
Ensembl peptide - ENSMUSP00000106324
NCBI entrez gene - 244349     See in Manteia.
MGI - MGI:2442415
RefSeq - NM_001081149
RefSeq - XM_006509112
RefSeq - XM_006509113
RefSeq Peptide - NP_001074618
swissprot - G3X940
Ensembl - ENSMUSG00000031540
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kat6aENSDARG00000018907Danio rerio
 KAT6AENSGALG00000003641Gallus gallus
 KAT6AENSG00000083168Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Kat6b / Q8BRB7 / Histone acetyltransferase KAT6B / Q8WYB5* / lysine acetyltransferase 6B*ENSMUSG0000002176750
Kat7 / Q5SVQ0 / K(lysine) acetyltransferase 7 / O95251* / lysine acetyltransferase 7*ENSMUSG0000003890911
Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*ENSMUSG000000249269
Kat8 / Q9D1P2 / Histone acetyltransferase KAT8 / Q9H7Z6* / lysine acetyltransferase 8*ENSMUSG000000308019


Protein motifs (from Interpro)
Interpro ID Name
 IPR001965  Zinc finger, PHD-type
 IPR002717  Histone acetyltransferase domain, MYST-type
 IPR005818  Linker histone H1/H5, domain H15
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR016181  Acyl-CoA N-acyltransferase
 IPR019787  Zinc finger, PHD-finger
 IPR031280  Histone acetyltransferase KAT6A
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006334 nucleosome assembly IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006473 protein acetylation IEA
 biological_processGO:0016573 histone acetylation IEA
 biological_processGO:0030099 myeloid cell differentiation IEA
 biological_processGO:0043966 histone H3 acetylation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0048513 animal organ development IEA
 biological_processGO:0090398 cellular senescence IEA
 cellular_componentGO:0000786 nucleosome IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0070776 MOZ/MORF histone acetyltransferase complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0004402 histone acetyltransferase activity IEA
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016407 acetyltransferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
HATs acetylate histones
Regulation of TP53 Activity through Acetylation


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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm2.2Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000239 deficiency of myeloid colony forming progenitor cells "lack of precursors of the myeloid cell types" [J:60630, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm2.2Avo/Kat6a+
Genetic Background: involves: BALB/c * FVB

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000333 decreased bone marrow cell number "decreased number of cells that make up the core cavities of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6

Allelic Composition: Kat6atm2.2Avo/Kat6a+
Genetic Background: involves: BALB/c * FVB

 MP:0000486 abnormal pulmonary trunk morphology "structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene, Mouse Genome Informatics Curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000600 liver hypoplasia "reduced size of liver due to decreased cell number " [J:57631]
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Allelic Composition: Gfi1tm1.1Wep/Gfi1tm1.1Wep
Genetic Background: B6.129-Gfi1tm1.1Wep

 MP:0000601 small liver "reduced size of the liver" [J:23170]
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Allelic Composition: Gfi1tm1.1Wep/Gfi1tm1.1Wep
Genetic Background: B6.129-Gfi1tm1.1Wep

 MP:0000690 absent spleen "missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000704 abnormal thymus development "anomaly in the formation and/or differentiation of the thymus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000705 athymia "absence of the primary lymphoid organ" [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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

Allelic Composition: Kat6atm2.2Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Kat6atm1.1Glac/Kat6a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0001601 abnormal myelopoiesis "atypical process of bone marrow cell formation and/or bone marrow-derived blood cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc]
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Allelic Composition: Gfi1tm1.1Wep/Gfi1tm1.1Wep
Genetic Background: B6.129-Gfi1tm1.1Wep

 MP:0001786 skin edema "accumulation of an excessive amount of fluid in the skin" [J:65039]
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Allelic Composition: Gfi1tm1.1Wep/Gfi1tm1.1Wep
Genetic Background: B6.129-Gfi1tm1.1Wep

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

 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: Kat6atm1.1Glac/Kat6a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002111 abnormal tail morphology "abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gfi1tm1.1Wep/Gfi1tm1.1Wep
Genetic Background: B6.129-Gfi1tm1.1Wep

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6

 MP:0002144 abnormal B lymphocyte development "atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002184 abnormal innervation "the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 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: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

 MP:0003755 abnormal palate "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Kat6atm2.2Avo/Kat6a+
Genetic Background: involves: BALB/c * FVB

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Avo/Kat6atm1Avo,Tg(RP23-35B9)33Avo/0
Genetic Background: involves: 129 * BALB/c * FVB/N

 MP:0004160 retroesophageal right subclavian artery "the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

Allelic Composition: Kat6atm2.2Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Kat6atm2.2Avo/Kat6a+
Genetic Background: involves: BALB/c * FVB

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0004607 abnormal cervical atlas morphology "any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [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: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0004618 thoracic vertebral transformation "homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0004648 decreased thoracic vertebrae number "reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Hif1atm3Rsjo/Hif1atm3Rsjo,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0004808 abnormal hematopoietic stem cell morphology "any structural anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1.1Glac/Kat6a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kat6atm2.2Avo/Kat6atm2.2Avo
Genetic Background: involves: BALB/c * FVB

 MP:0004810 decreased hematopoietic stem cell number "reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

Allelic Composition: Kat6atm1.1Glac/Kat6a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004953 decreased spleen weight "reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004956 decreased thymus weight "reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005017 decreased B cell number "fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kat6atm1Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6

 MP:0006208 embryonic lethality throughout fetal growth and development "death anytime after the completion of organogenesis but before E18.5 (E14 to less than E18.5)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0006354 abnormal fourth branchial arch artery morphology "any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0008208 decreased pro-B cell number "reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008209 decreased pre-B cell number "reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008215 decreased immature B cell number "reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008813 decreased common myeloid progenitor cell number "reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6atm1.1Glac
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008973 decreased erythroid progenitor cell number "reduced numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kat6atm1.1Glac/Kat6a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009395 persistence of primitive erythrocytes "presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm2.2Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Kat6atm2.2Avo/Kat6a+
Genetic Background: involves: BALB/c * FVB

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

 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: Kat6atm1Iki/Kat6atm1Iki
Genetic Background: Not Specified

Allelic Composition: Kat6atm2.2Avo/Kat6atm2.2Avo
Genetic Background: involves: BALB/c * FVB

 MP:0011110 partial preweaning 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 weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Kat6atm1Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6

 MP:0011659 interrupted aortic arch, type b "complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery" [MGI:csmith]
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Allelic Composition: Tlr4tm1Aki/Tlr4lps-2J
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

Allelic Composition: Kat6atm2.2Avo/Kat6a+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000001729 Akt1 / P31750 / Mus musculus thymoma viral proto-onco 1 (Akt1), transcript variant 3, mRNA. / P31749* / AKT serine/threonine kinase 1*  / reaction
 ENSMUSG00000059552 Trp53 / P02340 / transformation related protein 53 / TP53* / P04637* / tumor protein p53*  / reaction / complex
 ENSMUSG00000005886 Ncoa2 / Q61026 / Nuclear receptor coactivator 2 / Q15596*  / complex / reaction
 ENSMUSG00000026283 Ing5 / Q9D8Y8 / Inhibitor of growth protein 5 / Q8WYH8* / inhibitor of growth family member 5*  / complex
 ENSMUSG00000028863 Meaf6 / Q2VPQ9 / MYST/Esa1-associated factor 6 / Q9HAF1*  / complex
 ENSMUSG00000001632 Brpf1 / B2RRD7 / Peregrin / P55201* / bromodomain and PHD finger containing 1*  / complex
 ENSMUSG00000036986 Pml / Q60953 / Protein PML / P29590* / promyelocytic leukemia*  / reaction / complex






 

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