ENSMUSG00000060601


Mus musculus

Features
Gene ID: ENSMUSG00000060601
  
Biological name :Nr1h2
  
Synonyms : Nr1h2 / Oxysterols receptor LXR-beta / Q60644
  
Possible biological names infered from orthology : nuclear receptor subfamily 1 group H member 2 / P55055
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B3
Gene start: 44549616
Gene end: 44553951
  
Corresponding Affymetrix probe sets: 10562847 (MoGene1.0st)   1416353_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000126788
Ensembl peptide - ENSMUSP00000147076
Ensembl peptide - ENSMUSP00000146826
Ensembl peptide - ENSMUSP00000146601
Ensembl peptide - ENSMUSP00000146517
Ensembl peptide - ENSMUSP00000146466
Ensembl peptide - ENSMUSP00000146455
Ensembl peptide - ENSMUSP00000073188
Ensembl peptide - ENSMUSP00000103543
Ensembl peptide - ENSMUSP00000103544
Ensembl peptide - ENSMUSP00000103545
NCBI entrez gene - 22260     See in Manteia.
MGI - MGI:1352463
RefSeq - XM_017322126
RefSeq - NM_001285517
RefSeq - NM_001285518
RefSeq - NM_001285519
RefSeq - NM_009473
RefSeq - XM_006540804
RefSeq Peptide - NP_033499
RefSeq Peptide - NP_001272446
RefSeq Peptide - NP_001272447
RefSeq Peptide - NP_001272448
swissprot - A0A140LHL9
swissprot - A0A140LHK8
swissprot - A0A140LIH8
swissprot - A0A140LHY6
swissprot - A0A140LHR6
swissprot - Q60644
swissprot - Q8BP65
swissprot - A0A140LJ50
Ensembl - ENSMUSG00000060601
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NR1H2ENSG00000131408Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nr1h3 / Q9Z0Y9 / Mus musculus nuclear receptor subfamily 1, group H, member 3 (Nr1h3), transcript variant 3, mRNA. / Q13133* / nuclear receptor subfamily 1 group H member 3*ENSMUSG0000000210863
Nr1h4 / Q60641 / Bile acid receptor / Q96RI1* / nuclear receptor subfamily 1 group H member 4*ENSMUSG0000004763833
Nr1h5ENSMUSG0000004893830
Rarg / P18911 / Retinoic acid receptor gamma / P13631*ENSMUSG0000000128828
Rara / P11416 / retinoic acid receptor, alpha / P10276*ENSMUSG0000003799228
Rarb / P22605 / retinoic acid receptor, beta / P10826*ENSMUSG0000001749128
Thrb / P37242 / Thyroid hormone receptor beta / P10828*ENSMUSG0000002177926
Vdr / P48281 / vitamin D (1,25-dihydroxyvitamin D3) receptor / P11473* / vitamin D receptor*ENSMUSG0000002247926
Thra / P63058 / Thyroid hormone receptor alpha / P10827*ENSMUSG0000005875625
Nr1i2 / O54915 / Nuclear receptor subfamily 1 group I member 2 / O75469*ENSMUSG0000002280925
Nr1i3 / O35627 / Nuclear receptor subfamily 1 group I member 3 / Q14994*ENSMUSG0000000567724


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR013088  Zinc finger, NHR/GATA-type
 IPR023257  Liver X receptor
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IGI
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010867 positive regulation of triglyceride biosynthetic process ISO
 biological_processGO:0010875 positive regulation of cholesterol efflux IDA
 biological_processGO:0010884 positive regulation of lipid storage IMP
 biological_processGO:0010887 negative regulation of cholesterol storage ISO
 biological_processGO:0032270 positive regulation of cellular protein metabolic process ISO
 biological_processGO:0032369 negative regulation of lipid transport ISO
 biological_processGO:0032376 positive regulation of cholesterol transport ISO
 biological_processGO:0042632 cholesterol homeostasis IDA
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0044255 cellular lipid metabolic process IDA
 biological_processGO:0045723 positive regulation of fatty acid biosynthetic process ISO
 biological_processGO:0045861 negative regulation of proteolysis IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISO
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0048384 retinoic acid receptor signaling pathway IEA
 biological_processGO:0048550 negative regulation of pinocytosis ISO
 biological_processGO:0051006 positive regulation of lipoprotein lipase activity ISO
 biological_processGO:0055088 lipid homeostasis IMP
 biological_processGO:0090108 positive regulation of high-density lipoprotein particle assembly IDA
 biological_processGO:0090187 positive regulation of pancreatic juice secretion IMP
 biological_processGO:0090340 positive regulation of secretion of lysosomal enzymes IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm ISO
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IGI
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0004879 nuclear receptor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0034191 apolipoprotein A-I receptor binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046965 retinoid X receptor binding IDA
 molecular_functionGO:0051117 ATPase binding ISO


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
VLDLR internalisation and degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000740 impaired smooth muscle contractility "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0000822 abnormal brain ventricle morphology "malformed or absent fluid filled cavities of the cerebrum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0000826 abnormal third ventricle morphology "malformation or absence of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0001119 abnormal female reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that bears the offspring" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pla2g5tm1Jarm/Pla2g5tm1Jarm
Genetic Background: involves: 129 * C57BL/6

 MP:0001145 abnormal male reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that produces spermatozoa" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pla2g5tm1Jarm/Pla2g5tm1Jarm
Genetic Background: involves: 129 * C57BL/6

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001218 thin epidermis "reduced thickness of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Prkar2btm1Gsm/Prkar2btm1Gsm
Genetic Background: B6.129-Prkar2btm1Gsm

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Mirc30tm1.1Rdf/Mirc30tm1.1Rdf
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJaeSor * C57BL/6

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002078 abnormal glucose homeostasis "anomaly in the state of equilibrium or processing in the body with respect to glucose in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 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: Npc1m1N/Npc1m1N,Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * BALB/c

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Nr1h2tm1.1Nph/Nr1h2tm1.1Nph
Genetic Background: B6.129-Nr1h2tm1.1Nph

 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: Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [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: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [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: Pla2g5tm1Jarm/Pla2g5tm1Jarm
Genetic Background: involves: 129 * C57BL/6

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pla2g5tm1Jarm/Pla2g5tm1Jarm
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002685 abnormal proliferation of spermatogonia "reduction in the proliferation of the spermatogonial stem cells either due to reduced mitosis or increased apoptosis" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:62271]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002773 decreased circulating luteinizing hormone level "lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary" [J:35132, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002780 decreased circulating testosterone level "less than the normal blood concentration of this most potent androgen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Nr1h2tm1.1Gstr/Nr1h2+,Rxrbtm1Mma/Rxrb+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Nr1h2tm1.1Gstr/Nr1h2tm1.1Gstr
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002907 abnormal parturition "defect in the process of labor and delivery in female animals " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0003191 abnormal cellular cholesterol metabolism "impaired regulation of cellular cholesterol levels" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nr1h2tm1.1Nph/Nr1h2tm1.1Nph
Genetic Background: B6.129-Nr1h2tm1.1Nph

 MP:0003205 testicular atrophy "wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0003329 amyloid beta deposits 
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Allelic Composition: Nmur2tm1.1Eege/Nmur2tm1.1Eege
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0003698 abnormal male reproductive system physiology "anomaly in the function of the male organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0003699 abnormal female reproductive system physiology "anomaly in the function of the female organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0004778 increased foam cell number "greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions" [CL:0000517]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004950 abnormal brain vasculature "any structural anomaly of the blood vessel network of the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Nr1h2tm1.1Nph/Nr1h2tm1.1Nph
Genetic Background: B6.129-Nr1h2tm1.1Nph

 MP:0005438 abnormal glycogen homeostasis "abnormal processing and or utilization of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nr1h2tm1.1Nph/Nr1h2tm1.1Nph
Genetic Background: B6.129-Nr1h2tm1.1Nph

 MP:0005537 abnormal cerebral aqueduct "anomalous structure of the channel in the mesencephalon that connets the third and fourth ventricles" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0008028 pregnancy-related premature death "death occuring before the normal life span of an organism, occuring during pregnancy, parturition or lactation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008256 abnormal myometrium morphology "any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008280 male germ cell apoptosis "presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008934 absent choroid plexus "absence of the fringe of the tela choroidea of the brain ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0009229 abnormal median eminence morphology "any structural anomaly of the raised area at the infundibular region of the hypothalamus where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system" [MESH:A06.688.357.500]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 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: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0009671 abnormal uterus physiology "any anomaly in normal cyclical changes not due to anatomical defect" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0009688 abnormal spinal cord central canal morphology "any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0010027 increased liver cholesterol level "greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0010152 abnormal brain ependyma morphology "any structural anomaly of the cellular membrane that lines the brain ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0013218 abnormal substantia nigra pars reticulata morphology "any structural anomaly of the anterior (ventral) part of grey matter of the substantia nigra which contains smaller and loosely packed cells than the pars compacta, only some of which contain a small amount of pigment; the cells of pars reticulata bear a strong structural and functional resemblance to the inner segment of the globus pallidus; many cells in this region use GABA as a neurotransmitter" [MGI:anna]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0013598 Leydig cell hypertrophy "increased size of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH)" [MGI:Anna]
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Allelic Composition: Nr1h2tm1Djm/Nr1h2tm1Djm,Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0013908 small lateral ventricles "decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0013909 small third ventricle "decreased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0013910 small fourth ventricle "decreased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [MESH:A08.186.211.276.500, MGI:csmith]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0030021 increased muscle cell glucose uptake "increased ability of muscle cells to take in glucose" [MGI:anna]
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Allelic Composition: Nr1h2tm1.1Nph/Nr1h2tm1.1Nph
Genetic Background: B6.129-Nr1h2tm1.1Nph

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020265 Sumo3 / Q9Z172 / small ubiquitin-like modifier 3 / P55854*  / reaction
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction






 

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