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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 ear pigmentation
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Accession:MP:0000015 term browser browse the term
Definition:anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment



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abnormal ear pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:20880997 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IEA MGI NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP MGI PMID:6031677 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP MGI PMID:1490901 PMID:5473311 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
G Myo5a myosin VA IEA MGI NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970
JBrowse link
G Polh polymerase (DNA directed), eta (RAD 30 related) IAGP MGI PMID:16397220 NCBI chr17:46,482,281...46,513,567
Ensembl chr17:46,482,281...46,513,571
JBrowse link
G Slc24a5 solute carrier family 24, member 5 IAGP MGI PMID:18424845 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597
JBrowse link
decreased ear pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:10431243 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IEA MGI NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 IAGP MGI PMID:7203014 NCBI chr 7:19,239,708...19,242,295
Ensembl chr 7:19,238,411...19,242,292
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:6031677 PMID:12847290 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP MGI PMID:864040 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IEA MGI NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 IEA MGI NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IEA MGI NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
G Kitl kit ligand IEA MGI NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
JBrowse link
G Lyst lysosomal trafficking regulator IEA MGI NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
JBrowse link
G Mc1r melanocortin 1 receptor IAGP MGI PMID:15653560 NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8947051 PMID:11929848 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310
JBrowse link
G Oca2 oculocutaneous albinism II IEA MGI NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide IAGP MGI PMID:864040 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263
JBrowse link
G Tyr tyrosinase IEA MGI NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720
JBrowse link
G Tyrp1 tyrosinase-related protein 1 IEA MGI NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956
JBrowse link
increased ear pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd adrenocortical dysplasia IEA MGI NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734
JBrowse link
G Apc APC, WNT signaling pathway regulator IAGP MGI PMID:17002498 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Cbl Casitas B-lineage lymphoma IAGP MGI PMID:16211006 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 IAGP MGI PMID:28878021 NCBI chr18:61,687,307...61,723,391
Ensembl chr18:61,688,345...61,723,132
JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 IAGP MGI PMID:12533510 PMID:28194446 NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide IAGP MGI PMID:12533510 PMID:26763459 NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827
JBrowse link
G Kitl kit ligand IAGP MGI PMID:8875893 PMID:9360640 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
JBrowse link
G Krt2 keratin 2 IAGP MGI PMID:12533510 PMID:24751727 NCBI chr15:101,719,124...101,727,391
Ensembl chr15:101,719,124...101,726,604
JBrowse link
G Nf1 neurofibromin 1 IAGP MGI PMID:12533510 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Rpl27a ribosomal protein L27A IAGP MGI PMID:21674502 NCBI chr 7:109,118,354...109,121,967
Ensembl chr 7:109,118,354...109,121,574
JBrowse link
G Rps19 ribosomal protein S19 IAGP MGI PMID:18641651 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231
JBrowse link
G Rps20 ribosomal protein S20 IAGP MGI PMID:18641651 NCBI chr 4:3,831,334...3,835,600
Ensembl chr 4:3,831,334...3,835,665
JBrowse link
G Rps6 ribosomal protein S6 IAGP MGI PMID:18641651 NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649
JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:18641651 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16931
    pigmentation phenotype 729
      abnormal skin pigmentation 126
        abnormal ear pigmentation 33
          decreased ear pigmentation 16
          increased ear pigmentation 14
Path 2
Term Annotations click to browse term
  mammalian phenotype 16931
    growth/size/body region phenotype 7018
      abnormal head morphology 1353
        abnormal outer ear morphology 164
          abnormal outer ear skin morphology 35
            abnormal ear pigmentation 33
              decreased ear pigmentation 16
              increased ear pigmentation 14
paths to the root