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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 gland morphology
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Accession:MP:0000653 term browser browse the term
Definition:any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction
Synonyms:exact_synonym: abnormal genitalia gland morphology;   abnormal gland of genitalia;   abnormal gland of reproductive system;   abnormal reproductive gland morphology;   abnormal reproductive system gland morphology;   abnormal sex glands
 narrow_synonym: sex gland dysplasia


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abnormal adult Leydig cell differentiation 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
abnormal fetal Leydig cell differentiation 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
abnormal Leydig cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wwox WW domain-containing oxidoreductase IAGP DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
compared to wild type and heterozygotes 		RGD PMID:19500159 PMID:17803050 PMID:18676360 RGD:150429979, RGD:150429978, RGD:150429974 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:19500159 PMID:17803050 RGD:150429974, RGD:150429979, RGD:150429978
abnormal ovarian folliculogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP DNA:deletion:exon: RGD PMID:27895165 PMID:28007901 RGD:12879393, RGD:12879399 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
abnormal seminiferous tubule morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP DNA:deletion:exon: RGD PMID:27895165 PMID:28007901 RGD:12879393, RGD:12879399 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
absent corpus luteum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 IMP RGD PMID:28520870 PMID:29580824 RGD:38548924, RGD:38548925 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 RGD PMID:28520870 PMID:29580824 RGD:38548924, RGD:38548925
decreased corpora lutea number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
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 prostate gland weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx3-1 NK3 homeobox 1 IMP compared to wild type RGD PMID:33368416 RGD:150573817 NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441 		JBrowse link
G Nkx3-1em1Pjhak NK3 homeobox 1; TALEN induced mutant 1, Pjhak IMP compared to wild type RGD PMID:33368416 RGD:150573817
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:18676360 RGD:150429974 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 RGD:150429974
decreased seminal vesicle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:18676360 RGD:150429974 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 RGD:150429974
decreased Sertoli cell number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:18676360 RGD:150429974 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 RGD:150429974
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
enlarged testis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP DNA:deletion:intron 7, exon 8: RGD PMID:24773431 PMID:30877790 PMID:28894415 RGD:9831152, RGD:38548928, RGD:38501107 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe IMP RGD PMID:28894415 RGD:38501107
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8: RGD PMID:24773431 PMID:30877790 RGD:9831152, RGD:38548928
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 cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ovary degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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
prostate gland epithelial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx3-1 NK3 homeobox 1 IMP compared to wild type RGD PMID:33368416 RGD:150573817 NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441 		JBrowse link
G Nkx3-1em1Pjhak NK3 homeobox 1; TALEN induced mutant 1, Pjhak IMP compared to wild type RGD PMID:33368416 RGD:150573817
seminiferous tubule degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP compared to SD 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
small male preputial gland term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
small seminiferous tubules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP compared to SD 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 RGD:150429974 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 RGD:150429974
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 degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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
    endocrine/exocrine gland phenotype 394
      abnormal gland morphology 333
        abnormal sex gland morphology 68
          abnormal female reproductive gland morphology + 24
          abnormal male reproductive gland morphology + 59
          abnormal preputial gland morphology + 3
          absent sex gland + 0
          dilated sex gland 0
paths to the root