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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:pigmentation phenotype
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Accession:MP:0001186 term browser browse the term
Definition:the observable morphological and physiological characteristics of mammalian organisms that are manifested through the deposition or aggregation of coloring matter in any tissue or cell of the organism



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pigmentation phenotype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP beige coat color; ACI/N or DA/Ham rat RGD PMID:12638234 RGD:1302441 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Myo5a myosin VA IAGP dilute coat color RGD PMID:10920234 RGD:61493 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
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 retina pigment epithelium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase treatment IAGP RGD PMID:11592982 RGD:69668 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
JBrowse link
G Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant treatment IAGP RGD PMID:11592982 RGD:69668
abnormal retina pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component, mutant 1 IAGP RGD PMID:25878282 RGD:13451131
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
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
decreased skin pigmentation 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
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
hypopigmentation 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:21915282 RGD:6480217 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:21915282 RGD:6480217
lipofuscinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:21266465 RGD:126925759 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:21266465 RGD:126925759
ocular albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein IAGP RGD PMID:16245028 RGD:1579834 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
variable depigmentation 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

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