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Details
Link-It Detail - Jax Mouse Phenotype - abnormal outer hair cell stereociliary bundle morphology
Debug Stats
  • ### Total Build Time: 66 ms 38.812 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 440 bytes
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  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=58 ms Completed: 58 ms rowSize= 15.422 KB
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Jax Mouse Phenotype (1)
abnormal outer hair cell stereociliary bundle morphology MP:0004527
Definition (1)
any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia
Synonyms (1)
"abnormal OHC stereocilia" EXACT
Parents (2)
img abnormal cochlear outer hair cell morphology MP:0004399
img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
Children (6)
img decreased outer hair cell stereocilia number MP:0004529
img absent outer hair cell stereocilia MP:0004530
img fused outer hair cell stereocilia MP:0004528
img short outer hair cell stereocilia MP:0004531
img abnormal outer hair cell kinocilium morphology MP:0011062
img abnormal orientation of outer hair cell stereociliary bundles MP:0004491
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363110img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363111img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053778img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053779img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537710img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537711img abnormal cochlear outer hair cell morphology MP:0004399
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363110img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363111img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053778img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053779img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537710img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537711img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
Genes (47)

Species:
human : 47
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SpeciesGeneGeneIdGene NameEvidence
HumanGRXCR1389207glutaredoxin, cysteine rich 1
Click here to display 68 evidence detail records.
HumanPTPRQ374462protein tyrosine phosphatase, receptor type, Q
Click here to display 68 evidence detail records.
HumanLHFPL5222662lipoma HMGIC fusion partner-like 5
Click here to display 68 evidence detail records.
HumanSTRC161497stereocilin
Click here to display 68 evidence detail records.
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
Click here to display 68 evidence detail records.
HumanTMC1117531transmembrane channel-like 1
Click here to display 68 evidence detail records.
HumanGPR9884059G protein-coupled receptor 98
Click here to display 68 evidence detail records.
HumanFAT479633FAT atypical cadherin 4
INFERRED
HumanSMURF264750SMAD specific E3 ubiquitin protein ligase 2
INFERRED
HumanTMPRSS364699transmembrane protease, serine 3
Click here to display 68 evidence detail records.
HumanCDH2364072cadherin-related 23
Click here to display 68 evidence detail records.
HumanVANGL257216VANGL planar cell polarity protein 2
INFERRED
HumanMKS154903Meckel syndrome, type 1
INFERRED
HumanMYO15A51168myosin XVA
Click here to display 68 evidence detail records.
HumanDFNB3125861deafness, autosomal recessive 31
INFERRED
HumanFSCN225794fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
INFERRED
HumanCLDN1423562claudin 14
INFERRED
HumanTRIOBP11078TRIO and F-actin binding protein
Click here to display 68 evidence detail records.
HumanSEC24B10427SEC24 family, member B (S. cerevisiae)
INFERRED
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
Click here to display 68 evidence detail records.
HumanCELSR19620cadherin, EGF LAG seven-pass G-type receptor 1
INFERRED
HumanCLDN99080claudin 9
INFERRED
HumanSYNJ28871synaptojanin 2
INFERRED
HumanDCHS18642dachsous 1 (Drosophila)
INFERRED
HumanFZD18321frizzled family receptor 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004527abnormal outer hair cell stereociliary bundle morphology0self