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 choroid pigmentation
Accession: MP:0005100
browse the term
Definition: anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
Synonyms: exact_synonym: abnormal uveal pigmentation
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a
nonagouti
IAGP
MGI
PMID:12548288
NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
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Bloc1s4
biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
IAGP
MGI
PMID:11110696
NCBI chr 5:36,904,718...36,906,023
Ensembl chr 5:36,904,722...36,905,994
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Ednrb
endothelin receptor type B
IAGP
MGI
PMID:8001159
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:26113083
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
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Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
IAGP
MGI
PMID:9256466
NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
IAGP
MGI
PMID:11707070
NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
IAGP
MGI
PMID:11836498
NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
IAGP
MGI
PMID:12548288
NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488
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Hps6
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
IAGP
MGI
PMID:12548288
NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612
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Lyst
lysosomal trafficking regulator
IAGP
MGI
PMID:13943454
NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
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Mitf
melanogenesis associated transcription factor
IAGP
MGI
PMID:8947051
NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310
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Slc38a8
solute carrier family 38, member 8
IAGP
MGI
PMID:37862028
NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437
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Vps33a
VPS33A CORVET/HOPS core subunit
IAGP
MGI
PMID:9585243
NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101
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a
nonagouti
IAGP
MGI
PMID:4634048
NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
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Dtnbp1
dystrobrevin binding protein 1
IAGP
MGI
PMID:12923531
NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623
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Kxd1
KxDL motif containing 1
IAGP
MGI
PMID:22554196
NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606
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Lyst
lysosomal trafficking regulator
IAGP
MGI
PMID:4634048
NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
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Mlph
melanophilin
IAGP
MGI
PMID:4634048
NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864
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Myo5a
myosin VA
IAGP
MGI
PMID:4634048
NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970
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Oca2
oculocutaneous albinism II
IAGP
MGI
PMID:4634048
NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266
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Pmel
premelanosome protein
IAGP
MGI
PMID:21949658
NCBI chr10:128,531,757...128,555,993
Ensembl chr10:128,540,064...128,556,107
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Tyr
tyrosinase
IAGP
MGI
PMID:4634048
NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720
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Tyrp1
tyrosinase-related protein 1
IAGP
MGI
PMID:4634048
NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956
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Ece1
endothelin converting enzyme 1
IAGP
MGI
PMID:9449665
NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540
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