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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 coat/ hair morphology
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Accession:MP:0000367 term browser browse the term
Definition:any anomaly in the color, structure, growth, or texture of the hair
Synonyms:exact_synonym: abnormal coat/ hair;   abnormal pelage morphology;   coat/ hair abnormalities;   coat/ hair anomalies


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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 chr17:85,866,629...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
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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		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 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		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 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		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 chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
G Krt83 keratin 83 IAGP DNA:deletion RGD PMID:18420582 RGD:2316553 NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799 		JBrowse link
G Krt87 keratin 87 IAGP DNA:deletion RGD PMID:18420582 RGD:2316553 NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978 		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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
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 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
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 chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		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 chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
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 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		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:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		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:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		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
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 chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
G Edaradd EDAR associated via death domain IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219 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 compared to heterozygous animals RGD PMID:15829729 RGD:2304219
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 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP compared to heterozygous animals RGD PMID:15829729 RGD:2304219
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5407
    integument phenotype 171
      abnormal skin adnexa morphology 169
        abnormal coat/ hair morphology 63
          abnormal auchene hair morphology + 0
          abnormal awl hair morphology + 3
          abnormal coat appearance + 63
          abnormal duvet hair morphology + 0
          abnormal guard hair morphology + 0
          abnormal hair shaft morphology + 3
          abnormal zigzag hair morphology + 0
paths to the root