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
Accession: MP:0001186
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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
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
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
G
Ednrb
endothelin receptor type B
IAGP
RGD
PMID:8570650
RGD:628515
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115
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
G
Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
DNA:point mutation:exon:p.M1I (rat)
RGD
PMID:15112108
RGD:1300411
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
G
Crb1m1
crumbs 1, cell polarity complex component, mutant 1
IAGP
RGD
PMID:25878282
RGD:13451131
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
G
Tyrem1Kyo
tyrosinase; TALEN induced mutant1, Kyo
IMP
RGD
PMID:23409244
RGD:12792973
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
G
KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
IMP
RGD
PMID:1912576
RGD:5133424
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
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
G
Aireem1Ang
autoimmune regulator; ZFN induced mutant1, Ang
IMP
RGD
PMID:29959280
RGD:38599145
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
G
KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
IMP
RGD
PMID:1912576
RGD:5133424
G
Ednrb
endothelin receptor type B
IAGP
RGD
PMID:21915282
RGD:6480217
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115
G
Ednrbsl
endothelin receptor type B, spotting lethal
IAGP
RGD
PMID:21915282
RGD:6480217
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
G
Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:21266465
RGD:126925759
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
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
G
Aireem1Ang
autoimmune regulator; ZFN induced mutant1, Ang
IMP
RGD
PMID:29959280
RGD:38599145
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