ENSMUSG00000031403


Mus musculus

Features
Gene ID: ENSMUSG00000031403
  
Biological name :Dkc1
  
Synonyms : Dkc1 / H/ACA ribonucleoprotein complex subunit 4 / Q9ESX5
  
Possible biological names infered from orthology : dyskerin pseudouridine synthase 1 / O60832
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.3
Gene start: 75095854
Gene end: 75109777
  
Corresponding Affymetrix probe sets: 10600485 (MoGene1.0st)   1438015_at (Mouse Genome 430 2.0 Array)   1438016_at (Mouse Genome 430 2.0 Array)   1441788_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033776
Ensembl peptide - ENSMUSP00000120441
Ensembl peptide - ENSMUSP00000121253
Ensembl peptide - ENSMUSP00000121957
Ensembl peptide - ENSMUSP00000117706
NCBI entrez gene - 245474     See in Manteia.
MGI - MGI:1861727
RefSeq - XM_017318488
RefSeq - NM_001030307
RefSeq - XM_006528023
RefSeq Peptide - NP_001025478
swissprot - B7ZCL7
swissprot - A2AN81
swissprot - Q9ESX5
swissprot - F6S1S5
swissprot - F6YUI5
Ensembl - ENSMUSG00000031403
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dkc1ENSDARG00000016484Danio rerio
 DKC1ENSGALG00000005054Gallus gallus
 DKC1ENSG00000130826Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002478  PUA domain
 IPR002501  Pseudouridine synthase II, N-terminal
 IPR004521  Uncharacterised domain CHP00451
 IPR004802  tRNA pseudouridine synthase B family
 IPR012960  Dyskerin-like
 IPR015947  PUA-like superfamily
 IPR020103  Pseudouridine synthase, catalytic domain superfamily
 IPR032819  tRNA pseudouridylate synthase B, C-terminal
 IPR036974  PUA domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000495 box H/ACA snoRNA 3"-end processing IBA
 biological_processGO:0001522 pseudouridine synthesis IEA
 biological_processGO:0006364 rRNA processing IEA
 biological_processGO:0006396 RNA processing IEA
 biological_processGO:0007004 telomere maintenance via telomerase IEA
 biological_processGO:0009451 RNA modification IEA
 biological_processGO:0031118 rRNA pseudouridine synthesis IMP
 biological_processGO:0031120 snRNA pseudouridine synthesis IBA
 biological_processGO:0032212 positive regulation of telomere maintenance via telomerase IMP
 biological_processGO:0033979 box H/ACA snoRNA metabolic process IMP
 biological_processGO:0042254 ribosome biogenesis IEA
 biological_processGO:0051973 positive regulation of telomerase activity IEA
 biological_processGO:0090669 telomerase RNA stabilization IEA
 biological_processGO:1904851 positive regulation of establishment of protein localization to telomere IEA
 biological_processGO:1904872 regulation of telomerase RNA localization to Cajal body IEA
 biological_processGO:1904874 positive regulation of telomerase RNA localization to Cajal body IEA
 biological_processGO:1990481 mRNA pseudouridine synthesis IBA
 cellular_componentGO:0001650 fibrillar center IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005697 telomerase holoenzyme complex IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0015030 Cajal body IEA
 cellular_componentGO:0031429 box H/ACA snoRNP complex IEA
 cellular_componentGO:0090661 box H/ACA telomerase RNP complex IEA
 molecular_functionGO:0003720 telomerase activity IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0009982 pseudouridine synthase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0034513 box H/ACA snoRNA binding IEA
 molecular_functionGO:0070034 telomerase RNA binding IEA


Pathways (from Reactome)
Pathway description
Telomere Extension By Telomerase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0000240 extramedullary hematopoiesis "formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
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Allelic Composition: Lrp6Cd/Lrp6Cd
Genetic Background: A-Lrp6Cd

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0000716 abnormal immune system cell morphology "anomalous structure, development, or number of immune cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0001236 abnormal spinous layer morphology "structual or developmental anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0001239 abnormal granular layer morphology "structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Tg(CAG-lacZ,-FUS*R521G,-EGFP)682Gyu/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0001545 abnormal hematopoietic system physiology "anomalous function of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * 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: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0001861 lung inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0001883 mammary adenocarcinoma "higher than normal incidence of malignant tumors of the mammary gland" [J:62919]
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Allelic Composition: Lrp6Cd/Lrp6Cd
Genetic Background: A-Lrp6Cd

 MP:0002018 malignant tumors "higher than normal incidence of locally invasive, destructive and metastatic tumors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:44427]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0002023 B cell derived lymphoma "heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0002050 pheochromocytoma "a benign neoplasm derived from adrenal medullary cells; usually associated with hypertension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:63229]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 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: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dkc1tm3Pjma/Dkc1tm3Pjma
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Axin1Fu/Axin1+
Genetic Background: involves: 129/Rr * C3H/He * C57BL/6J * wild

Allelic Composition: Dkc1tm1Bsl/Y
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Dkc1tm2Bsl/Dkc1tm2Bsl
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Dkc1tm2Bsl/Y
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Dkc1tm2.1Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm1.1Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm3Pjma/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Dkc1tm3Pjma/Dkc1tm3Pjma
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0002396 abnormal hematopoietic system morphology/development "any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cebpatm1.1(Cebpb)Ylee/Cebpatm1.1Gonz
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002398 abnormal bone marrow cell morphology/development "anomalous structure or formation of the cells found in the bone marrow" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0002447 abnormal erythrocyte morphology "structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0002722 abnormal immune system organ morphology "anomalous structure/organization or development of lymphoid organs" [cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0003155 abnormal telomere length "abnormal length of the terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability; normal length is a few hundred base pairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0003179 decreased platelet count "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0003426 pulmonary interstitial fibrosis "formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:63134]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0004179 transmission ratio distortion "the occurence of an allele or haplotype in the offspring of an organism at skewed Mendelian ratios" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 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: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0005016 decreased lymphocyte number "fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0005018 decreased T cell number "fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Leprdb/Leprdb
Genetic Background: involves: C57BLKS/J

Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

Allelic Composition: Dkc1tm2Pjma/Y
Genetic Background: chimera involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: Cebpatm1.1(Cebpb)Ylee/Cebpatm1.1Gonz
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0008477 decreased spleen red pulp amount "reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0008479 decreased spleen white pulp amount "reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0008714 lung carcinoma "a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous" [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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0009278 abnormal bone marrow cell physiology "any functional anomaly of any of the cells found in the blood" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0009563 dyskeratosis "premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0010024 increased total body fat amount "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0010363 increased fibrosarcoma incidence "greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0010384 increased renal carcinoma incidence "greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0010901 abnormal pulmonary alveolar parenchyma morphology "any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages" [ISBN:070202788 "Saunders Comprehensive Veterinary Dictionary, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0010903 abnormal pulmonary alveolus wall morphology 
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 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: Notch2tm3Grid/Notch2tm3.1Grid,Pax3tm1(cre)Joe/Pax3+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * 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: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0011346 renal tubule atrophy "acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

 MP:0011704 decreased fibroblast proliferation "reduction in the expansion rate of a fibroblast cell population by cell division" [MGI:csmith]
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Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0011903 decreased hematopoietic stem cell proliferation "reduction in the expansion rate of a hematopoietic stem cell population by cell division" [MGI:csmith]
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Allelic Composition: Dkc1tm1.1Pjma/Y
Genetic Background: B6.129X1(FVB)-Dkc1tm1.1Pjma

 MP:0012119 increased trophectoderm apoptosis "increase in the number of trophectoderm cells undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0012120 trophectoderm cell degeneration "a retrogressive impairment of function or destruction of trophectoderm cells" [MGI:anna]
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Allelic Composition: Dkc1tm2Bsl/Y,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

Allelic Composition: Dkc1tm2Bsl/Dkc1+,Tg(Gata1-cre)1Sho/0
Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

 MP:0013501 increased fibroblast apoptosis "increase in the timing or the number of fibroblast cells undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Dkc1tm1Ppp/Y
Genetic Background: involves: 129S1/Sv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021611 Tert / O70372 / telomerase reverse transcriptase / O14746*  / reaction / complex
 ENSMUSG00000031403 Dkc1 / Q9ESX5 / H/ACA ribonucleoprotein complex subunit 4 / O60832* / dyskerin pseudouridine synthase 1*  / complex






 

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© Olivier Tassy / Olivier Pourquie 2007-2024
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