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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 head skin morphology
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Accession:MP:0030529 term browser browse the term
Definition:any anomaly in a zone of skin that is part of the head


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abnormal head skin morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 IAGP MGI PMID:29113991 NCBI chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409 		JBrowse link
G Krt14 keratin 14 IAGP MGI PMID:29113991 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374 		JBrowse link
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...113,055,336 		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
abnormal facial skin morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clps colipase, pancreatic IAGP MGI PMID:11751900 NCBI chr17:28,777,184...28,779,740
Ensembl chr17:28,777,123...28,779,740 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:14975722 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Plat plasminogen activator, tissue IAGP MGI PMID:8133887 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Plau plasminogen activator, urokinase IAGP MGI PMID:8133887 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:14975722 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
abnormal outer ear skin morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue IAGP MGI PMID:8133887 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Plau plasminogen activator, urokinase IAGP MGI PMID:8133887 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
abnormal periorbital skin morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:14975722 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:14975722 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
abnormal snout skin morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C member 6 IAGP MGI PMID:28592560 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 IAGP MGI PMID:33996804 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Dsc1 desmocollin 1 IAGP MGI PMID:11714727 NCBI chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928 		JBrowse link
G Dsg3 desmoglein 3 IAGP MGI PMID:25542773 NCBI chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:28592560 PMID:33996804 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP MGI PMID:28592560 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057 		JBrowse link
G Nt5e 5' nucleotidase, ecto IAGP MGI PMID:28592560 NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145 		JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:28592560 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317 		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
decreased forehead pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snai2 snail family zinc finger 2 IAGP MGI PMID:12444107 NCBI chr16:14,523,716...14,527,259
Ensembl chr16:14,523,716...14,527,249 		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
increased forehead pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17097
    integument phenotype 2874
      abnormal skin morphology 1685
        abnormal head skin morphology 49
          abnormal facial skin morphology + 15
          abnormal outer ear skin morphology + 35
paths to the root