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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal sex determination
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Accession:MP:0002210 term browser browse the term
Definition:anomaly of primary or secondary sexual development or characteristics
Synonyms:exact_synonym: abnormal sexual differentiation
 alt_id: MP:0001936


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absent sexual maturation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis-suppressor IMP RGD PMID:25582792 RGD:10059342 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
G Kiss1tm1Nips KiSS-1 metastasis-suppressor; targeted mutant 1, Nips IMP RGD PMID:25582792 RGD:10059342
decreased ovary weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY RGD PMID:22655094 RGD:40924659
G Esr2 estrogen receptor 2 IMP RGD PMID:29580824 PMID:28520870 RGD:38548925, RGD:38548924 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar IMP compared to wild type RGD PMID:28520870 PMID:29580824 RGD:38548924, RGD:38548925
decreased testis weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY and heterozygous RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY and heterozygous RGD PMID:22655094 RGD:40924659
G Esr1 estrogen receptor 1 IMP RGD PMID:24506075 RGD:8552987 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar IMP RGD PMID:24506075 RGD:8552987
G Sbf1 SET binding factor 1 IAGP DNA:substitution:intron 37:G>A (rat) RGD PMID:27335132 RGD:38549340 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Sbf1m1Ipcv SET binding factor 1; mutation 1, Institute of Physiology, Czechoslovac Academy of Sciences IAGP RGD PMID:27335132 RGD:38549340
G Spata22 spermatogenesis associated 22 treatment IDA RGD PMID:23903057 RGD:38549346 NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Tp53 tumor protein p53 IMP RGD PMID:28834365 RGD:14995504 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage IMP compared to SD RGD PMID:28834365 RGD:14995504
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:18676360 PMID:17803050 RGD:150429974, RGD:150429978 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:18676360 PMID:17803050 RGD:150429974, RGD:150429978
delayed fertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 IMP compared to wild type RGD PMID:29444903 RGD:150429710 NCBI chr 1:246,175,216...246,211,445
Ensembl chr 1:236,762,842...236,799,066 		JBrowse link
G Cyp2c11em1Nju cytochrome P450, subfamily 2, polypeptide 11; CRISPR/Cas9 induced mutant 1, Nju IMP compared to wild type RGD PMID:29444903 RGD:150429710
early sexual maturation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis-suppressor IDA via chronic central administration of kisspeptin-10 to immature females RGD PMID:15486019 RGD:2292180 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
male pseudohermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule IMP RGD PMID:21062903 RGD:38548923 NCBI chr 7:131,929,857...131,935,352
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
ovary atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
ovary hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 IMP compared to wild type RGD PMID:28520870 RGD:38548924 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar IMP compared to wild type RGD PMID:28520870 RGD:38548924
small testis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:24983376 RGD:13434925 NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494 		JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 RGD:13434925
G Esr1 estrogen receptor 1 IMP RGD PMID:24506075 RGD:8552987 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar IMP RGD PMID:24506075 RGD:8552987
testicular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
testis hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:191,945,809...191,950,480
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5428
    reproductive system phenotype 129
      abnormal reproductive system morphology 97
        abnormal sex determination 49
          abnormal primary sex determination + 38
          abnormal secondary sex determination + 11
          sex reversal + 0
paths to the root