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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 orientation of cochlear hair cell stereociliary bundles
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Accession:MP:0004522 term browser browse the term
Definition:misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium


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abnormal orientation of cochlear hair cell stereociliary bundles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) IAGP MGI PMID:18339676 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Dchs1 dachsous cadherin related 1 IAGP MGI PMID:21303848 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 IAGP MGI PMID:16141228 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 IAGP MGI PMID:16116426 PMID:19008950 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 IAGP MGI PMID:19008950 NCBI chr16:20,335,694...20,352,763
Ensembl chr16:20,335,732...20,352,760 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:18678597 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Fat4 FAT atypical cadherin 4 IAGP MGI PMID:18604206 PMID:21303848 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Grxcr2 glutaredoxin, cysteine rich 2 IAGP MGI PMID:30157177 NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114 		JBrowse link
G Jag2 jagged 2 IAGP MGI PMID:16141228 NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396 		JBrowse link
G Myo6 myosin VI IAGP MGI PMID:28832620 PMID:31103816 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:9435277 PMID:18339676 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Osbpl2 oxysterol binding protein-like 2 IAGP MGI PMID:35041619 NCBI chr 2:179,758,059...179,804,475
Ensembl chr 2:179,761,099...179,804,473 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:16799054 PMID:18339676 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Scrib scribbled planar cell polarity IAGP MGI PMID:21515572 NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633 		JBrowse link
G Smurf1 SMAD specific E3 ubiquitin protein ligase 1 IAGP MGI PMID:19379695 NCBI chr 5:144,813,305...144,902,657
Ensembl chr 5:144,813,305...144,902,657 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 IAGP MGI PMID:19379695 NCBI chr11:106,710,887...106,811,544
Ensembl chr11:106,710,892...106,811,541 		JBrowse link
G Tomt transmembrane O-methyltransferase IAGP MGI PMID:18794526 NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
G Ush1c USH1 protein network component harmonin IAGP MGI PMID:18339676 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans IAGP MGI PMID:18339676 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 IAGP MGI PMID:18296642 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:16116426 PMID:19008950 PMID:24135232 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
abnormal orientation of inner hair cell stereociliary bundles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) IAGP MGI PMID:8790740 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:12194867 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:12194867 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Fzd3 frizzled class receptor 3 IAGP MGI PMID:16495441 NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912 		JBrowse link
G Fzd6 frizzled class receptor 6 IAGP MGI PMID:16495441 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		JBrowse link
G Jag2 jagged 2 IAGP MGI PMID:10080181 NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396 		JBrowse link
G Mob1a MOB kinase activator 1A IAGP MGI PMID:23143302 NCBI chr 6:83,303,016...83,320,758
Ensembl chr 6:83,302,998...83,320,758 		JBrowse link
G Mob1b MOB kinase activator 1B IAGP MGI PMID:23143302 NCBI chr 5:88,868,730...88,906,314
Ensembl chr 5:88,868,714...88,912,079 		JBrowse link
G Myo6 myosin VI IAGP MGI PMID:23485424 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:23251483 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:16914494 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:11124469 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Ptk7 PTK7 protein tyrosine kinase 7 IAGP MGI PMID:15229603 NCBI chr17:46,875,377...46,940,975
Ensembl chr17:46,875,397...46,940,430 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q IAGP MGI PMID:14534255 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		JBrowse link
G Sec24b SEC24 homolog B, COPII coat complex component IAGP MGI PMID:19966784 NCBI chr 3:129,776,408...129,855,248
Ensembl chr 3:129,776,408...129,855,202 		JBrowse link
G Ush1c USH1 protein network component harmonin IAGP MGI PMID:20211154 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 IAGP MGI PMID:18296642 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:18296642 PMID:23986237 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
abnormal orientation of outer hair cell stereociliary bundles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 IAGP MGI PMID:16775142 PMID:17329413 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 IAGP MGI PMID:16170314 NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 IAGP MGI PMID:16170314 NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) IAGP MGI PMID:8790740 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 IAGP MGI PMID:12842012 NCBI chr15:85,782,959...85,918,424
Ensembl chr15:85,783,130...85,918,404 		JBrowse link
G Clrn1 clarin 1 IAGP MGI PMID:19414487 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Cobl cordon-bleu WH2 repeat IAGP MGI PMID:30157434 NCBI chr11:12,186,676...12,415,022
Ensembl chr11:12,186,608...12,414,960 		JBrowse link
G Dchs1 dachsous cadherin related 1 IAGP MGI PMID:21303848 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 IAGP MGI PMID:16116426 PMID:16571627 NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 IAGP MGI PMID:16116426 PMID:16571627 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Fat4 FAT atypical cadherin 4 IAGP MGI PMID:21303848 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Fzd1 frizzled class receptor 1 IAGP MGI PMID:20940229 NCBI chr 5:4,803,839...4,808,216
Ensembl chr 5:4,803,839...4,808,035 		JBrowse link
G Fzd2 frizzled class receptor 2 IAGP MGI PMID:20940229 NCBI chr11:102,495,257...102,498,884
Ensembl chr11:102,495,222...102,498,884 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) IAGP MGI PMID:26662512 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
G Grxcr2 glutaredoxin, cysteine rich 2 IAGP MGI PMID:30157177 NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114 		JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 IAGP MGI PMID:24203697 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G Mkks McKusick-Kaufman syndrome IAGP MGI PMID:16170314 NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:21045211 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Myo6 myosin VI IAGP MGI PMID:23485424 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:23251483 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:16914494 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:11124469 PMID:16887306 PMID:21427143 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 IAGP MGI PMID:19176829 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
G Ptk7 PTK7 protein tyrosine kinase 7 IAGP MGI PMID:15229603 PMID:20704721 NCBI chr17:46,875,377...46,940,975
Ensembl chr17:46,875,397...46,940,430 		JBrowse link
G Ripor2 RHO family interacting cell polarization regulator 2 IAGP MGI PMID:27269051 NCBI chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799 		JBrowse link
G Scrib scribbled planar cell polarity IAGP MGI PMID:20215345 NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633 		JBrowse link
G Sec24b SEC24 homolog B, COPII coat complex component IAGP MGI PMID:19966784 PMID:20215345 NCBI chr 3:129,776,408...129,855,248
Ensembl chr 3:129,776,408...129,855,202 		JBrowse link
G Smurf1 SMAD specific E3 ubiquitin protein ligase 1 IAGP MGI PMID:19379695 NCBI chr 5:144,813,305...144,902,657
Ensembl chr 5:144,813,305...144,902,657 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 IAGP MGI PMID:19379695 NCBI chr11:106,710,887...106,811,544
Ensembl chr11:106,710,892...106,811,541 		JBrowse link
G Ush1c USH1 protein network component harmonin IAGP MGI PMID:20211154 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Usp53 ubiquitin specific peptidase 53 IAGP MGI PMID:26609154 NCBI chr 3:122,725,142...122,778,184
Ensembl chr 3:122,725,142...122,778,159 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 IAGP MGI PMID:18296642 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:16116426 PMID:16170314 PMID:18296642 PMID:20940229 PMID:21404367 More... NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16738
    hearing/vestibular/ear phenotype 1016
      abnormal ear morphology 566
        abnormal inner ear morphology 353
          abnormal hair cell morphology 242
            abnormal cochlear hair cell morphology 232
              abnormal cochlear hair cell stereociliary bundle morphology 107
                abnormal orientation of cochlear hair cell stereociliary bundles 47
                  abnormal orientation of inner hair cell stereociliary bundles 18
                  abnormal orientation of outer hair cell stereociliary bundles 33
Path 2
Term Annotations click to browse term
  mammalian phenotype 16738
    hearing/vestibular/ear phenotype 1016
      abnormal ear morphology 566
        abnormal inner ear morphology 353
          abnormal membranous labyrinth morphology 305
            abnormal cochlear labyrinth morphology 271
              abnormal scala media morphology 271
                abnormal organ of Corti morphology 242
                  abnormal cochlear hair cell morphology 232
                    abnormal cochlear hair cell stereociliary bundle morphology 107
                      abnormal orientation of cochlear hair cell stereociliary bundles 47
                        abnormal orientation of inner hair cell stereociliary bundles 18
                        abnormal orientation of outer hair cell stereociliary bundles 33
paths to the root