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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 cochlear hair cell inter-stereocilial links morphology
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Accession:MP:0004577 term browser browse the term
Definition:any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles


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abnormal cochlear hair cell inter-stereocilial links morphology 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:17295842 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
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 Myo15a myosin XVA IAGP MGI PMID:26302205 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:18339676 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:18339676 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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
abnormal cochlear hair bundle tip links morphology 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 PMID:19270079 PMID:21436032 PMID:22326520 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 IAGP MGI PMID:11276175 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		JBrowse link
G Myo15a myosin XVA IAGP MGI PMID:21436032 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Pcdh15 protocadherin 15 IAGP MGI PMID:18339676 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Ush1c USH1 protein network component harmonin IAGP MGI PMID:19447093 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:21436032 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
abnormal cochlear hair bundle transient lateral links morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin IAGP MGI PMID:27117407 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
absent cochlear hair bundle ankle links 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:17567809 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:18339676 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16734
    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 cochlear hair cell inter-stereocilial links morphology 9
                  abnormal cochlear hair bundle ankle links morphology + 2
                  abnormal cochlear hair bundle horizontal top connectors morphology 0
                  abnormal cochlear hair bundle tip links morphology 6
                  abnormal cochlear hair bundle transient lateral links morphology 1
Path 2
Term Annotations click to browse term
  mammalian phenotype 16734
    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 cochlear hair cell inter-stereocilial links morphology 9
                        abnormal cochlear hair bundle ankle links morphology + 2
                        abnormal cochlear hair bundle horizontal top connectors morphology 0
                        abnormal cochlear hair bundle tip links morphology 6
                        abnormal cochlear hair bundle transient lateral links morphology 1
paths to the root