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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 vestibular saccule morphology
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Accession:MP:0006089 term browser browse the term
Definition:any structural anomaly of the smaller of the two sacs in the vestibule
Synonyms:exact_synonym: abnormal saccule morphology


show annotations for term's descendants           Sort by:
abnormal vestibular saccule morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr active BCR-related gene IAGP MGI PMID:11921339 NCBI chr11:76,307,560...76,468,515
Ensembl chr11:76,307,560...76,514,384 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 IAGP MGI PMID:10687933 PMID:21325754 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase IAGP MGI PMID:11921339 NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:18404215 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cachd1 cache domain containing 1 IAGP MGI PMID:34388681 NCBI chr 4:100,633,870...100,861,741
Ensembl chr 4:100,633,872...100,886,417 		JBrowse link
G Dlx5 distal-less homeobox 5 IAGP MGI PMID:12142028 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:16916509 PMID:18678597 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Fgf3 fibroblast growth factor 3 IAGP MGI PMID:17855431 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:16410827 PMID:18404215 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:23971992 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 IAGP MGI PMID:11425898 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 IAGP MGI PMID:11425898 NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Hmx3 H6 homeobox 3 IAGP MGI PMID:9435283 NCBI chr 7:131,143,263...131,147,756
Ensembl chr 7:131,144,596...131,146,654 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:16410827 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 IAGP MGI PMID:11226272 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP MGI PMID:5473311 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha IAGP MGI PMID:23226461 NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		JBrowse link
G Mctp1 multiple C2 domains, transmembrane 1 IAGP MGI PMID:30217595 NCBI chr13:76,530,481...77,181,403
Ensembl chr13:76,532,259...77,179,929 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4392283 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Oc90 otoconin 90 IAGP MGI PMID:17300776 NCBI chr15:65,747,899...65,784,260
Ensembl chr15:65,747,902...65,784,246 		JBrowse link
G Otog otogelin IAGP MGI PMID:10655058 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Otx1 orthodenticle homeobox 1 IEA MGI NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:16916509 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:5912439 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:10430593 PMID:15952048 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked IAGP MGI PMID:18289812 NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:16916509 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 IAGP MGI PMID:20442411 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 IAGP MGI PMID:15846349 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:23971992 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbx10 T-box 10 IAGP MGI PMID:5297683 NCBI chr19:4,042,752...4,049,512
Ensembl chr19:4,042,752...4,049,512 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 IAGP MGI PMID:21454591 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
abnormal vestibular saccular macula morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 IAGP MGI PMID:8538792 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase IAGP MGI PMID:20577052 NCBI chr 1:93,682,627...93,717,328
Ensembl chr 1:93,679,222...93,718,332 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 IAGP MGI PMID:16495313 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134 		JBrowse link
G Dlx5 distal-less homeobox 5 IAGP MGI PMID:12142028 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:16495313 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 IAGP MGI PMID:15829521 NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901 		JBrowse link
G Hoxa1 homeobox A1 IAGP MGI PMID:11528388 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Mctp1 multiple C2 domains, transmembrane 1 IAGP MGI PMID:30217595 NCBI chr13:76,530,481...77,181,403
Ensembl chr13:76,532,259...77,179,929 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:30217595 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
G Otog otogelin IAGP MGI PMID:26636018 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:15242798 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
abnormal vestibular saccule duct morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mctp1 multiple C2 domains, transmembrane 1 IAGP MGI PMID:30217595 NCBI chr13:76,530,481...77,181,403
Ensembl chr13:76,532,259...77,179,929 		JBrowse link
absent vestibular saccule term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:20736290 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		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 Foxg1 forkhead box G1 IAGP MGI PMID:20736290 PMID:23971992 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Gata3 GATA binding protein 3 IAGP MGI PMID:11135239 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 IAGP MGI PMID:15829521 NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:23971992 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Hoxa1 homeobox A1 IAGP MGI PMID:11528388 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha IEA MGI NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:10934015 PMID:15242798 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:12231626 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
enlarged vestibular saccule term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 IAGP MGI PMID:12642503 NCBI chr11:34,154,341...34,158,089
Ensembl chr11:34,154,338...34,158,089 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 IAGP MGI PMID:11152663 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
fused vestibular saccule and utricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mctp1 multiple C2 domains, transmembrane 1 IAGP MGI PMID:30217595 NCBI chr13:76,530,481...77,181,403
Ensembl chr13:76,532,259...77,179,929 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:30217595 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
small vestibular saccule term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:16916509 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Fgf10 fibroblast growth factor 10 IAGP MGI PMID:12761848 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Mctp1 multiple C2 domains, transmembrane 1 IAGP MGI PMID:30217595 NCBI chr13:76,530,481...77,181,403
Ensembl chr13:76,532,259...77,179,929 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:16916509 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:16916509 PMID:19389353 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 IAGP MGI PMID:15846349 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Tbx10 T-box 10 IAGP MGI PMID:5297683 NCBI chr19:4,042,752...4,049,512
Ensembl chr19:4,042,752...4,049,512 		JBrowse link
vestibular saccular degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 IAGP MGI PMID:10441500 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) IEA MGI NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:24009395 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Hmx2 H6 homeobox 2 IAGP MGI PMID:15363417 NCBI chr 7:131,150,486...131,159,743
Ensembl chr 7:131,150,502...131,159,743 		JBrowse link
G Hmx3 H6 homeobox 3 IAGP MGI PMID:15363417 NCBI chr 7:131,143,263...131,147,756
Ensembl chr 7:131,144,596...131,146,654 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:15952048 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 IAGP MGI PMID:16945494 NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 IAGP MGI PMID:24009395 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:24009395 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
vestibular saccular macula degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) IAGP MGI PMID:13336002 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Espn espin IEA MGI NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 IAGP MGI PMID:13336002 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		JBrowse link
G Hmx3 H6 homeobox 3 IAGP MGI PMID:9435283 NCBI chr 7:131,143,263...131,147,756
Ensembl chr 7:131,144,596...131,146,654 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 IAGP MGI PMID:15243133 NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IAGP MGI PMID:12618319 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Myo6 myosin VI IAGP MGI PMID:5980120 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:13336002 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:15952048 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 IAGP MGI PMID:17287522 NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077 		JBrowse link
G S1pr3 sphingosine-1-phosphate receptor 3 IAGP MGI PMID:17287522 NCBI chr13:51,562,654...51,576,833
Ensembl chr13:51,562,675...51,576,833 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 IAGP MGI PMID:11152663 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 IEA MGI NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Tmie transmembrane inner ear IAGP MGI PMID:14027064 NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		JBrowse link
G Ush1g USH1 protein network component sans IAGP MGI PMID:1927362 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17065
    hearing/vestibular/ear phenotype 1012
      abnormal ear morphology 570
        abnormal inner ear morphology 354
          abnormal inner ear vestibule morphology 96
            abnormal otolith organ morphology 68
              abnormal vestibular saccule morphology 57
                abnormal vestibular saccular macula morphology + 26
                abnormal vestibular saccule duct morphology 1
                absent vestibular saccule 10
                enlarged vestibular saccule 2
                fused vestibular saccule and utricle 2
                small vestibular saccule 7
                vestibular saccular degeneration 9
Path 2
Term Annotations click to browse term
  mammalian phenotype 17065
    hearing/vestibular/ear phenotype 1012
      abnormal ear morphology 570
        abnormal inner ear morphology 354
          abnormal membranous labyrinth morphology 305
            abnormal vestibular labyrinth morphology 99
              abnormal otolith organ morphology 68
                abnormal vestibular saccule morphology 57
                  abnormal vestibular saccular macula morphology + 26
                  abnormal vestibular saccule duct morphology 1
                  absent vestibular saccule 10
                  enlarged vestibular saccule 2
                  fused vestibular saccule and utricle 2
                  small vestibular saccule 7
                  vestibular saccular degeneration 9
paths to the root