Manteia - Molecule gene

ENSMUSG00000024140

Mus musculus

Features

Gene ID:	ENSMUSG00000024140

Biological name :	Epas1

Synonyms :	Endothelial PAS domain-containing protein 1 / Epas1 / P97481

Possible biological names infered from orthology :	endothelial PAS domain protein 1 / Q99814

Species:	Mus musculus

Chr. number:	17
Strand:	1
Band:	E4
Gene start:	86753907
Gene end:	86833410

Corresponding Affymetrix probe sets:	10447317 (MoGene1.0st) 1435436_at (Mouse Genome 430 2.0 Array) 1449888_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000024954 NCBI entrez gene - 13819 See in Manteia. MGI - MGI:109169 RefSeq - NM_010137 RefSeq Peptide - NP_034267 swissprot - P97481 Ensembl - ENSMUSG00000024140

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 name	ID	Species
epas1a	ENSDARG00000008697	Danio rerio
epas1b	ENSDARG00000057671	Danio rerio
EPAS1	ENSGALG00000010005	Gallus gallus
EPAS1	ENSG00000116016	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Hif1a / Q61221 / Hypoxia-inducible factor 1-alpha / Q16665* / hypoxia inducible factor 1 alpha subunit*	ENSMUSG00000021109	44
Hif3a / Q0VBL6 / Hypoxia-inducible factor 3-alpha / Q9Y2N7* / hypoxia inducible factor 3 alpha subunit*	ENSMUSG00000004328	30
Npas3 / neuronal PAS domain protein 3 / Q8IXF0*	ENSMUSG00000021010	21
Sim1 / Q61045 / Single-minded homolog 1 / P81133* / single-minded family bHLH transcription factor 1*	ENSMUSG00000019913	20
Sim2 / Q61079 / Single-minded homolog 2 / Q14190* / single-minded family bHLH transcription factor 2*	ENSMUSG00000062713	20
Npas1 / P97459 / Neuronal PAS domain-containing protein 1 / Q99742* / neuronal PAS domain protein 1*	ENSMUSG00000001988	17
Clock / O08785 / Circadian locomoter output cycles protein kaput / O15516* / clock circadian regulator*	ENSMUSG00000029238	15
Arnt / P53762 / Aryl hydrocarbon receptor nuclear translocator / P27540*	ENSMUSG00000015522	15
Npas2 / neuronal PAS domain protein 2 / Q99743*	ENSMUSG00000026077	14
Arnt2 / Q61324 / Aryl hydrocarbon receptor nuclear translocator 2 / Q9HBZ2*	ENSMUSG00000015709	14
Arntl / Q9WTL8 / Mus musculus aryl hydrocarbon receptor nuclear translocator-like (Arntl), transcript variant 3, mRNA. / O00327* / aryl hydrocarbon receptor nuclear translocator like*	ENSMUSG00000055116	12
Arntl2 / Q2VPD4 / Aryl hydrocarbon receptor nuclear translocator-like protein 2 / Q8WYA1* / aryl hydrocarbon receptor nuclear translocator like 2*	ENSMUSG00000040187	12

Protein motifs (from Interpro)

Interpro ID	Name
IPR000014	PAS domain
IPR001067	Nuclear translocator
IPR001610	PAC motif
IPR011598	Myc-type, basic helix-loop-helix (bHLH) domain
IPR013655	PAS fold-3
IPR013767	PAS fold
IPR014887	HIF-1 alpha, transactivation domain, C-terminal
IPR021537	Hypoxia-inducible factor, alpha subunit
IPR035965	PAS domain superfamily
IPR036638	Helix-loop-helix DNA-binding domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001525	angiogenesis	IMP
biological_process	GO:0001666	response to hypoxia	IEA
biological_process	GO:0001892	embryonic placenta development	IGI
biological_process	GO:0001974	blood vessel remodeling	IMP
biological_process	GO:0002027	regulation of heart rate	IMP
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0006366	transcription by RNA polymerase II	IEA
biological_process	GO:0006979	response to oxidative stress	IMP
biological_process	GO:0007005	mitochondrion organization	IMP
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0007601	visual perception	IMP
biological_process	GO:0030097	hemopoiesis	IMP
biological_process	GO:0030154	cell differentiation	IGI
biological_process	GO:0030218	erythrocyte differentiation	IMP
biological_process	GO:0030324	lung development	IMP
biological_process	GO:0042415	norepinephrine metabolic process	IMP
biological_process	GO:0043129	surfactant homeostasis	IMP
biological_process	GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IMP
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
biological_process	GO:0048469	cell maturation	IMP
biological_process	GO:0048625	myoblast fate commitment	IMP
biological_process	GO:0055072	iron ion homeostasis	IGI
biological_process	GO:0071456	cellular response to hypoxia	IEA
cellular_component	GO:0005634	nucleus	IDA
cellular_component	GO:0005667	transcription factor complex	ISO
cellular_component	GO:0005737	cytoplasm	IDA
cellular_component	GO:0016607	nuclear speck	IEA
molecular_function	GO:0001077	transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	IDA
molecular_function	GO:0003677	DNA binding	ISO
molecular_function	GO:0003700	DNA-binding transcription factor activity	IDA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008134	transcription factor binding	IEA
molecular_function	GO:0035035	histone acetyltransferase binding	IEA
molecular_function	GO:0043565	sequence-specific DNA binding	IEA
molecular_function	GO:0046982	protein heterodimerization activity	IEA
molecular_function	GO:0046983	protein dimerization activity	IEA

Pathways (from Reactome)

Pathway description

Regulation of gene expression by Hypoxia-inducible Factor

Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha

Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000208	decreased hematocrit	"less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Epas1^tm1Yms/Epas1^tm1Yms,Tg(Vil-cre)20Syr/0 Genetic Background: B6.Cg-Epas1^tm1Yms Tg(Vil-cre)20Syr Allelic Composition: Egln1^tm1.1Brei/Egln1^tm1.1Brei,Epas1^tm1Mcs/Epas1^tm1Mcs,Tg(CD68-icre)1Bwlx/0 Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0000218	increased WBC count	"greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0000220	increased monocyte count	"greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0000260	abnormal angiogenesis	"aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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]	Show Allelic Composition: Entpd1^{tm1b(EUCOMM)Wtsi}/Entpd1^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Entpd1^{tm1b(EUCOMM)Wtsi}/Ieg
MP:0000691	enlarged spleen	"increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
MP:0001011	abnormal superior cervical ganglion morphology	"malformation or absence of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr,Hif1a^tm1Pec/Hif1a⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0001176	abnormal lung development	"malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001177	atelectasis	"collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001179	thicker alveolar septa		Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001544	abnormal cardiovascular system physiology	"anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * 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]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
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]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
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]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
MP:0001914	hemorrhage	"loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Tubb1^tm1Shiv/Tubb1^tm1Shiv Genetic Background: Not Specified Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001954	respiratory distress	"physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Egln1^tm2.1Fsl/Egln1^tm2.1Fsl,Gt(ROSA)26Sor^{tm9(cre/ESR1)Arte}/Gt(ROSA)26Sor⁺,Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Genetic Background: B6.Cg-Gt(ROSA)26Sor^{tm9(cre/ESR1)Arte} Egln1^tm2.1Fsl Hif1a^tm3Rsjo
MP:0002273	abnormal alveolar epithelial cell morphology	"any structural anomaly of the cells lining the alveoli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002416	abnormal proerythroblast morphology/development	"anomalous structure, formation, or numbers of the immature, nucleated erythrocyte precursors that give rise to reticulocytes " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
MP:0002608	increased hematocrit	"greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0002833	increased heart weight	"greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0002874	decreased hemoglobin content	"decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Epas1^tm1Yms/Epas1^tm1Yms,Tg(Vil-cre)20Syr/0 Genetic Background: B6.Cg-Epas1^tm1Yms Tg(Vil-cre)20Syr Allelic Composition: Egln1^tm1.1Brei/Egln1^tm1.1Brei,Epas1^tm1Mcs/Epas1^tm1Mcs,Tg(CD68-icre)1Bwlx/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Epas1^{tm1b(EUCOMM)Hmgu}/Epas1⁺ Genetic Background: C57BL/6N-Epas1^{tm1b(EUCOMM)Hmgu}/H
MP:0002875	decreased erythrocyte count	"reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Epas1^tm1Yms/Epas1^tm1Yms,Tg(Vil-cre)20Syr/0 Genetic Background: B6.Cg-Epas1^tm1Yms Tg(Vil-cre)20Syr
MP:0002953	thick ventricular wall	"increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0003020	decreased circulating chloride level	"reduced concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Epas1^{tm1b(EUCOMM)Hmgu}/Epas1⁺ Genetic Background: C57BL/6N-Epas1^{tm1b(EUCOMM)Hmgu}/H
MP:0003131	increased erythrocyte count	"greater number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0003229	abnormal vitelline vasculature	"malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]	Show Allelic Composition: Tubb1^tm1Shiv/Tubb1^tm1Shiv Genetic Background: Not Specified Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003710	abnormal physiological neovascularization	"anomalies in the development of new blood vessels in restoration of blood circulation during the healing process " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Kitl^Sl-18R/Kitl⁺ Genetic Background: C3.Cg-Kitl^Sl-18R
MP:0003733	abnormal inner nuclear layer morphology	"malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-18R/Kitl⁺ Genetic Background: C3.Cg-Kitl^Sl-18R
MP:0004007	abnormal lung vasculature	"malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0004151	hypoferremia	"less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Epas1^tm1Yms/Epas1^tm1Yms,Tg(Vil-cre)20Syr/0 Genetic Background: B6.Cg-Epas1^tm1Yms Tg(Vil-cre)20Syr
MP:0004780	abnormal surfactant secretion	"anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0004811	abnormal neuron physiology	"anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr,Epas1^tm1Pec/Epas1⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0004952	increased spleen weight	"greater than 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"]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0005013	increased lymphocyte number	"greater than normal white blood cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0005103	abnormal retinal pigmentation	"anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Entpd1^{tm1b(EUCOMM)Wtsi}/Entpd1^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Entpd1^{tm1b(EUCOMM)Wtsi}/Ieg
MP:0005166	decreased susceptiblity to injury	"less than the normal reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0005333	decreased heart rate	"fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0005551	abnormal eye electrophysiology	"abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]	Show Allelic Composition: Kitl^Sl-18R/Kitl⁺ Genetic Background: C3.Cg-Kitl^Sl-18R
MP:0005564	increased hemoglobin content	"increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0005573	increased breathing frequency	"greater than the normal number of breaths in a given period of time" [RGD:Rat Genome Database submission]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0005664	decreased circulating noradrenaline level	"less than the normal blood concentration of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0006138	congestive heart failure	"the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0008941	reticulocytopenia	"decrease in the normal number of circulating reticulocytes" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
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"]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S4/SvJae * CD-1 Allelic Composition: Epas1^tm1Mcs/Epas1^tm1Mcs,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1
MP:0009703	decreased birth body size	"reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tubb1^tm1Shiv/Tubb1^tm1Shiv Genetic Background: Not Specified
MP:0010017	visceral vascular congestion	"obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0010019	liver vascular congestion	"obstruction of the normal flux of blood within the blood vessel network of the liver" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0010021	heart vascular congestion	"obstruction of the normal flux of blood within the blood vessel network of the heart" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
MP:0010460	pulmonary artery hypoplasia	"underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0010755	abnormal heart right ventricle pressure	"any anomaly in the pressure within the right cardiac ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129 Allelic Composition: Epas1^tm1.1Fsl/Epas1⁺ Genetic Background: involves: C57BL/6 * C57BL/6NTac
MP:0010811	decreased type II pneumocyte number	"reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", PMID:8540632]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0010813	abnormal alveolar lamellar body morphology	"any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0010831	partial lethality	"the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0010869	decreased bone trabecula number	"decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Epas1^tm1Mcs/Epas1^tm1Mcs,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1
MP:0010879	decreased trabecular bone volume	"decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S4/SvJae * CD-1 Allelic Composition: Epas1^tm1Mcs/Epas1^tm1Mcs,Hif1a^tm3Rsjo/Hif1a^tm3Rsjo,Vhl^tm1Jae/Vhl^tm1Jae,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1
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]	Show Allelic Composition: Tubb1^tm1Shiv/Tubb1^tm1Shiv Genetic Background: Not Specified
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]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
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]	Show Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc,Tg(Tek-cre)1Ywa/0 Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL
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]	Show Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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]	Show Allelic Composition: Adra2a^tm1Lel/Adra2a^tm1Lel Genetic Background: involves: 129S2/SvPas * C57BL/6
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]	Show Allelic Composition: Epas1^{tm1b(EUCOMM)Hmgu}/Epas1⁺ Genetic Background: C57BL/6N-Epas1^{tm1b(EUCOMM)Hmgu}/H
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]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6
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]	Show Allelic Composition: Apob^tm1.1Zc/Apob⁺ Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Epas1^tm1Rus/Epas1^tm1Rus Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6) Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR
MP:0011285	increased circulating erythropoietin level	"greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Nlrp3^tm3.1Hhf/Nlrp3⁺ Genetic Background: involves: 129
MP:0011286	decreased circulating erythropoietin level	"reduced blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Epas1^tm1Mcs/Epas1^tm1Mcs,Hif1a^tm3Rsjo/Hif1a^tm3Rsjo,Vhl^tm1Jae/Vhl^tm1Jae,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1 Allelic Composition: Epas1^tm1Mcs/Epas1^tm1Mcs,Vhl^tm1Jae/Vhl^tm1Jae,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * CD-1
MP:0013294	prenatal lethality prior to heart atrial septation	"death prior to the completion of heart atrial septation (Mus: E14.5-15.5)" [MGI:smb]	Show Allelic Composition: Epas1^{tm1b(EUCOMM)Hmgu}/Epas1⁺ Genetic Background: C57BL/6N-Epas1^{tm1b(EUCOMM)Hmgu}/H

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000019927	P61080 / Ube2d1 / ubiquitin-conjugating enzyme E2D 1 / P51668*	/ reaction
ENSMUSG00000015522	Arnt / P53762 / Aryl hydrocarbon receptor nuclear translocator / P27540*	/ complex / reaction
ENSMUSG00000022400	Rbx1 / P62878 / E3 ubiquitin-protein ligase RBX1 E3 ubiquitin-protein ligase RBX1, N-terminally processed / P62877* / ring-box 1*	/ complex / reaction
ENSMUSG00000055839	Elob / P62869 / Elongin-B / Q15370*	/ complex / reaction
ENSMUSG00000025239	Limd1 / Q9QXD8 / LIM domain-containing protein 1 / Q9UGP4* / LIM domains containing 1*	/ complex / reaction
ENSMUSG00000031987	Egln1 / Q91YE3 / Egl nine homolog 1 / Q9GZT9* / egl-9 family hypoxia inducible factor 1*	/ complex / reaction
ENSMUSG00000035105	Egln3 / egl-9 family hypoxia inducible factor 3 / Q9H6Z9*	/ complex / reaction
ENSMUSG00000024231	Cul2 / Q9D4H8 / Cullin-2 / Q13617*	/ reaction / complex
ENSMUSG00000079658	Eloc / P83940 / Elongin-C / Q15369*	/ complex / reaction
ENSMUSG00000033933	Vhl / P40338 / von Hippel-Lindau tumor suppressor / VHLL* / Q6RSH7* / P40337* / VHL like*	/ complex / reaction
ENSMUSG00000055024	Ep300 / B2RWS6 / Histone acetyltransferase p300 / Q09472* / E1A binding protein p300*	/ complex
ENSMUSG00000036450	Hif1an / Q8BLR9 / Hypoxia-inducible factor 1-alpha inhibitor / Q9NWT6* / hypoxia inducible factor 1 alpha subunit inhibitor*	/ reaction
ENSMUSG00000078578	P61079 / Ube2d3 / ubiquitin-conjugating enzyme E2D 3 / P61077*	/ reaction
ENSMUSG00000091896	P62838 / Ube2d2a / ubiquitin-conjugating enzyme E2D 2A / UBE2D2* / P62837* / ubiquitin conjugating enzyme E2 D2*	/ reaction

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