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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 skin adnexa morphology
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Accession:MP:0010678 term browser browse the term
Definition:any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
Synonyms:exact_synonym: abnormal skin accessory structure morphology;   abnormal skin appendage morphology


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abnormal awl hair morphology 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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
abnormal coat/hair pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP RGD PMID:8570650 RGD:628515 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:8570650 RGD:628515
G Rab38 RAB38, member RAS oncogene family IAGP DNA:point mutation:exon:p.M1I RGD PMID:15112108 RGD:1300411 NCBI chr 1:151,595,153...151,675,492
Ensembl chr 1:151,595,078...151,675,493 		JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP DNA:point mutation:exon:p.M1I (rat) RGD PMID:15112108 RGD:1300411
abnormal hair cuticle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:134,752,240...134,778,765
Ensembl chr 7:134,752,248...134,761,033 		JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
abnormal hair growth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 IAGP RGD PMID:8790387 RGD:1300512 NCBI chr10:63,749,461...63,778,468
Ensembl chr10:63,749,461...63,771,771 		JBrowse link
G Krt83 keratin 83 IAGP DNA:deletion RGD PMID:18420582 RGD:2316553 NCBI chr 7:134,482,911...134,489,600
Ensembl chr 7:134,482,911...134,489,600 		JBrowse link
G Krt87 keratin 87 IAGP DNA:deletion RGD PMID:18420582 RGD:2316553 NCBI chr 7:134,426,567...134,433,740
Ensembl chr 7:134,426,567...134,433,740 		JBrowse link
abnormal hair texture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
abnormal mammary gland alveolus morphology 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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
abnormal mammary gland development 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:16964288 RGD:1599505 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:16964288 RGD:1599505
G Esr1 estrogen receptor 1 IMP RGD PMID:24506075 RGD:8552987 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		JBrowse link
G Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar IMP RGD PMID:24506075 RGD:8552987
abnormal mammary gland luminal epithelium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B IMP RGD PMID:30893315 RGD:126908018 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
abnormal piliary canal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
abnormal sebaceous gland morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP RGD PMID:29979634 RGD:401976416
absent coat pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase IMP
IAGP 		DNA:deletion:cds:
DNA:missense mutation:exon:p.R299H 		RGD PMID:23409244 PMID:15760344 RGD:12792973, RGD:1599687 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
absent Meibomian glands 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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
absent sweat 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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IMP RGD PMID:29959280 RGD:38599145 NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,635,775...10,650,709 		JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
G Dsg4 desmoglein 4 IMP RGD PMID:15606503 RGD:150521560 NCBI chr18:11,995,902...12,032,908
Ensembl chr18:11,995,902...12,032,908 		JBrowse link
G Dsg4hr desmoglein 4; hairless mutant IMP RGD PMID:15606503 RGD:150521560
G Gla galactosidase, alpha IMP RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP RGD PMID:29979634 RGD:401976416
G Vdr vitamin D receptor IMP RGD PMID:32231239 RGD:32716373 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka IMP RGD PMID:32231239 RGD:32716373
belly spot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:1912576 RGD:5133424 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 IMP RGD PMID:1912576 RGD:5133424
darkened coat color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrn attractin IAGP DNA:deletion RGD PMID:11209055 RGD:67998 NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360 		JBrowse link
decreased hair follicle number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
deformed nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
dilated hair follicle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:134,752,240...134,778,765
Ensembl chr 7:134,752,248...134,761,033 		JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
diluted coat color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:1912576 RGD:5133424 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 IMP RGD PMID:1912576 RGD:5133424
hairless term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
increased subcutaneous adipose tissue amount term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfb complement factor B IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfbem1Tja complement factor B, ZFN induced mutant 1, Tja IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403
G Mc4r melanocortin 4 receptor IMP RGD PMID:21527895 RGD:6478803 NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:21527895 RGD:6478803
kinked vibrissae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,995,902...12,032,908
Ensembl chr18:11,995,902...12,032,908 		JBrowse link
long toenails 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 1:191,946,471...191,953,453 		JBrowse link
mammary gland hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP in females, compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP in females, compared to heterozygous animals RGD PMID:15829729 RGD:2304219
nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IMP RGD PMID:29959280 RGD:38599145 NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,635,775...10,650,709 		JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
progressive hair loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:134,752,240...134,778,765
Ensembl chr 7:134,752,248...134,761,033 		JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
G Mecp2 methyl CpG binding protein 2 IMP compared to SD wild-type RGD PMID:27329765 RGD:40924662 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP compared to SD wild-type RGD PMID:27329765 RGD:40924662
rough coat term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to Wild type RGD PMID:29979634 RGD:401976416
G Mecp2 methyl CpG binding protein 2 sexual_dimorphism IMP compared to SD wild-type male RGD PMID:27329765 RGD:40924662 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs sexual_dimorphism IMP compared to SD wild-type male RGD PMID:27329765 RGD:40924662
small hair follicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
sparse hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,995,902...12,032,908
Ensembl chr18:11,995,902...12,032,908 		JBrowse link
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
sparse vibrissae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,995,902...12,032,908
Ensembl chr18:11,995,902...12,032,908 		JBrowse link
thin hair shaft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:134,752,240...134,778,765
Ensembl chr 7:134,752,248...134,761,033 		JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
waved hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5440
    integument phenotype 171
      abnormal skin adnexa morphology 169
        abnormal coat/ hair morphology + 63
        abnormal hypodermis morphology + 9
        abnormal mammary gland morphology + 99
        abnormal nail morphology + 8
        abnormal pilosebaceous unit morphology + 11
        abnormal skin adnexa development + 7
        abnormal sweat gland morphology + 3
        abnormal vibrissa follicle morphology 0
        abnormal vibrissa morphology + 2
        swellings + 0
paths to the root