ENSMUSG00000026751


Mus musculus

Features
Gene ID: ENSMUSG00000026751
  
Biological name :Nr5a1
  
Synonyms : Nr5a1 / P33242 / Steroidogenic factor 1
  
Possible biological names infered from orthology : nuclear receptor subfamily 5 group A member 1 / Q13285
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: B
Gene start: 38692656
Gene end: 38714542
  
Corresponding Affymetrix probe sets: 10482237 (MoGene1.0st)   1418315_at (Mouse Genome 430 2.0 Array)   1421730_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028084
Ensembl peptide - ENSMUSP00000108504
NCBI entrez gene - 26423     See in Manteia.
MGI - MGI:1346833
RefSeq - XM_006498060
RefSeq - NM_001316687
RefSeq - NM_139051
RefSeq - XM_006498057
RefSeq - XM_006498058
RefSeq - XM_006498059
RefSeq - XM_006498056
RefSeq Peptide - NP_620639
RefSeq Peptide - NP_001303616
swissprot - P33242
Ensembl - ENSMUSG00000026751
  

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
 nr5a1aENSDARG00000103176Danio rerio
 nr5a1bENSDARG00000023362Danio rerio
 nr6a1aENSDARG00000096224Danio rerio
 NR5A1ENSGALG00000001080Gallus gallus
 NR5A1ENSG00000136931Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nr5a2 / P45448 / Nuclear receptor subfamily 5 group A member 2 / O00482*ENSMUSG0000002639859
Nr1d2 / Q60674 / nuclear receptor subfamily 1, group D, member 2 / Q14995*ENSMUSG0000002177523
Nr1d1 / Q3UV55 / Nuclear receptor subfamily 1 group D member 1 / P20393*ENSMUSG0000002088921
Rorc / P51450 / Nuclear receptor ROR-gamma / P51449* / RAR related orphan receptor C*ENSMUSG0000002815020
Rorb / Q8R1B8 / Nuclear receptor ROR-beta / Q92753* / RAR related orphan receptor B*ENSMUSG0000003619220
Nr6a1 / Q64249 / Nuclear receptor subfamily 6 group A member 1 / Q15406*ENSMUSG0000006397219
Rora / P51448 / RAR-related orphan receptor alpha / P35398* / RAR related orphan receptor A*ENSMUSG0000003223819
Ppara / P23204 / peroxisome proliferator activated receptor alpha / Q07869*ENSMUSG0000002238318
Ppard / P35396 / Peroxisome proliferator-activated receptor delta / Q03181*ENSMUSG0000000225018
Pparg / peroxisome proliferator activated receptor gamma / P37231*ENSMUSG0000000044018


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
 IPR016355  Nuclear hormone receptor family 5
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001553 luteinization 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 IDA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007530 sex determination ISS
 biological_processGO:0008584 male gonad development ISO
 biological_processGO:0008585 female gonad development ISO
 biological_processGO:0009755 hormone-mediated signaling pathway IBA
 biological_processGO:0009888 tissue development IMP
 biological_processGO:0010259 multicellular organism aging IMP
 biological_processGO:0010628 positive regulation of gene expression ISO
 biological_processGO:0022414 reproductive process IMP
 biological_processGO:0030154 cell differentiation IGI
 biological_processGO:0030325 adrenal gland development IMP
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0042445 hormone metabolic process IMP
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0051457 maintenance of protein location in nucleus IDA
 biological_processGO:0097210 response to gonadotropin-releasing hormone IEA
 biological_processGO:0097720 calcineurin-mediated signaling IEA
 biological_processGO:2000020 positive regulation of male gonad development ISO
 biological_processGO:2000195 negative regulation of female gonad development IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding ISO
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003690 double-stranded DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ISO
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0004879 nuclear receptor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding ISO
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding ISO
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000633 abnormal pituitary gland morphology "anomalous structure of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000653 abnormal sex gland morphology "anomalous structure of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0000837 abnormal hypothalamus morphology "any malformation or absence of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001116 small gonad "reduced size of the testis or the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 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]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0001121 uterine hypoplasia "reduced size of the uterus due to decreased cell number" [J:45065]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0001127 small ovary "reduced size of the female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0001129 impaired ovarian folliculogenesis "a block in the formation of the spherical ovum in the ovary" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0001132 absent mature ovarian follicles "failure of ovarian follicle differentiation" [J:35782]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tfap2btm1Rbu/Tfap2b+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001152 Leydig cell hyperplasia "increased number of interstitial cells of the seminiferous tubules that secrete testosterone" [J:45065]
Show

Allelic Composition: Tfap2btm1Rbu/Tfap2b+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0001155 arrest of spermatogenesis "block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa" [J:62271]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Pdpntm1Mcws/Pdpn+
Genetic Background: involves: 129S6/SvEvTac

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Tfap2btm1Rbu/Tfap2b+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0001928 abnormal ovulation "aberration in the release of an ovum from a rupturing Graafin follicle, normally regulated by a surge in lutenizing hormone" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sirt1tm1Mcby/Sirt1tm1Mcby
Genetic Background: 129/Sv-Sirt1tm1Mcby

 MP:0001939 secondary sex reversal "secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0001940 testicular hypoplasia "decreased cell number in the testicles" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

 MP:0002160 abnormal reproductive system morphology "structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdpntm1Mcws/Pdpn+
Genetic Background: involves: 129S6/SvEvTac

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2.1Hain/Nr5a1tm2.1Hain
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002184 abnormal innervation "the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmnatm2Stw/Lmnatm2Stw
Genetic Background: involves: 129S1/Sv

 MP:0002211 abnormal primary sex determination "aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex " [llw2:Linda Washburn , Mouse Genome Informatics Curator, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0002212 abnormal secondary sex determination "gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 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]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0002286 cryptorchism "failure of one or both of the testes to descend into the scrotum around the time of birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0002636 delayed vaginal opening "the opening of the genital canal in a female occuring at a later than expected age" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0002682 reduced number of mature ovarian follicles "fewer than normal numbers of spehroidal cell aggregations in the ovary containing the ovum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0002768 small adrenal glands "reduced size of endocrine glands located above the kidneys responsible for hormone and epinephrine secretion" [J:78062]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 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]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 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]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0002786 abnormal Leydig cell morphology "malformation or absence of the interstitial cells of the seminiferous tubules that secrete testosterone" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0002790 decreased circulating follicle stimulating hormone level "less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0003379 absent sexual maturation "failure to initiate pubertal changes that result in achievement of full sexual capacity" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0003578 absent ovary "absence of the female reproductive gland containing the germ cells" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Allelic Composition: Nr5a1tm3Klp/Nr5a1tm3Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0003830 abnormal testis development "abnormal morphogenesis of the male reproductive gland containing the germ cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100020]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0003963 abnormal corticosterone level "anomalous blood or tissue concentration of this adrenocortical steroid; induces glycogen deposition and regulates sodium conservation and potassium secretion" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0004834 ovary hemorrhage "presence of bleeding in the ovary" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0004856 decreased ovary weight "reduction in the average weight of the female reproductive gland containing the germ cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0005130 decreased follicle stimulating hormone level "less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0005132 decreased luteinizing hormone level "lower than normal concentration of LH " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0005147 prostate gland hypoplasia "reduced size of the prostate, usually due to a reduction in cell number " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0005148 seminal gland hypoplasia "reduction in size, usually due to a reduction in cell number, of one of the two folded, sac shaped glands that is a diverticulum of the ductus deferens" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:64337]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0005158 ovary hypoplasia "underdeveloped ovaries, usually due to reduced cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78931]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0005313 absent adrenal gland "missing endocrine glands that are normally located above the kidney and responsible for hormone and epinepherine secretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56651]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm3Klp/Nr5a1tm3Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0005536 Leydig cell hypoplasia "reduced numbers of the interstitial cells of the seminiferous tubules that secrete testosterone" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm2Klp/Nr5a1tm2Klp,Tg(Cga-cre)3Sac/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

 MP:0005644 agonadal "denoting the absence of gonads" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nr5a1tm3Klp/Nr5a1tm3Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0006415 absent testes "absence of the male reproductive glands containing the germ cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Allelic Composition: Nr5a1tm3Klp/Nr5a1tm3Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0006418 abnormal testis cord formation "any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0008293 abnormal zona glomerulosa morphology "any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced" [MESH:A06.407.071.140.960, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cyp11b2tm1.1(cre)Brlt/Cyp11b2+,Nr5a1tm2Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008297 retention of the x-zone "failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:3582592]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1+
Genetic Background: Not Specified

 MP:0008335 decreased gonadotroph cell number "reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0008869 anovulation "complete failure of ovum to be released from an ovarian follicle" [MESH:C13.351.500.056.630.050, MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0009203 external male genitalia hypoplasia "underdevelopment or reduced size of the external masculine genital organs, usually due to a reduced number of cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0009207 internal male genitalia hypoplasia "underdevelopment or reduced size of the internal masculine genital organs, usually due to a reduced number of cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0009444 ovarian follicular cyst "a sac filled with fluid that may develop when the structure containing the egg fails to break open at the time of ovulation" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm2Stw/Lmnatm2Stw
Genetic Background: involves: 129S1/Sv

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Nr5a1tm1Jmi/Nr5a1tm1Jmi
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Allelic Composition: Nr5a1tm3Klp/Nr5a1tm3Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 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: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Nr5a1tm2.1Klp/Nr5a1tm2.1Klp
Genetic Background: involves: 129P2/OlaHsd

 MP:0011384 abnormal progesterone level "anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy" [ISBN:0-683-40008-8]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0011385 abnormal testosterone level "anomaly in the concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females" [ISBN:0-683-40008-8]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

 MP:0011411 abnormal gonadal ridge morphology "any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary" [MGI:anna]
Show

Allelic Composition: Nr5a1tm1Klp/Nr5a1tm1Klp
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0011415 abnormal aldosterone level "anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule" [ISBN:0-683-40008-8]
Show

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain
Genetic Background: Not Specified

Allelic Composition: Nr5a1tm1.1Hain/Nr5a1tm1.1Hain,Shhtm1Amc/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0020556 abnormal ventromedial hypothalamic nucleus morphology "any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity" []
Show

Allelic Composition: Lmnatm2Stw/Lmnatm2Stw
Genetic Background: involves: 129S1/Sv

 MP:0020558 decreased ventromedial hypothalamic nucleus size "decrease in the size of the ventromedial hypothalamic nucleus" []
Show

Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / complex / reaction
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr