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Details
Link-It Detail - Jax Mouse Phenotype - abnormal inner hair cell stereociliary bundle morphology
Debug Stats
  • ### Total Build Time: 78 ms 38.899 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 440 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.925 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=22 ms Completed: 22 ms rowSize= 16.663 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=33 ms Completed: 33 ms rowSize= 15.517 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.193 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal inner hair cell stereociliary bundle morphology MP:0004532
Definition (1)
any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; 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 row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia
Synonyms (1)
"abnormal IHC bundles" EXACT
Parents (2)
img abnormal cochlear inner hair cell morphology MP:0004393
img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
Children (6)
img abnormal inner hair cell kinocilium morphology MP:0011061
img abnormal orientation of inner hair cell stereociliary bundles MP:0004492
img decreased inner hair cell stereocilia number MP:0004534
img short inner hair cell stereocilia MP:0004536
img absent inner hair cell stereocilia MP:0004535
img fused inner hair cell stereocilia MP:0004533
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363110img abnormal cochlear inner hair cell morphology MP:0004393
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363111img abnormal cochlear inner hair cell morphology MP:0004393
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053778img abnormal cochlear inner hair cell morphology MP:0004393
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053779img abnormal cochlear inner hair cell morphology MP:0004393
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537710img abnormal cochlear inner hair cell morphology MP:0004393
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537711img abnormal cochlear inner hair cell morphology MP:0004393
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 (31)

Species:
human : 31
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Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanGRXCR1389207glutaredoxin, cysteine rich 1
Click here to display 39 evidence detail records.
HumanPTPRQ374462protein tyrosine phosphatase, receptor type, Q
Click here to display 39 evidence detail records.
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
Click here to display 39 evidence detail records.
HumanMOB1B92597MOB kinase activator 1B
INFERRED
HumanGPR9884059G protein-coupled receptor 98
Click here to display 39 evidence detail records.
HumanESPN83715espin
Click here to display 39 evidence detail records.
HumanTMPRSS364699transmembrane protease, serine 3
Click here to display 39 evidence detail records.
HumanCDH2364072cadherin-related 23
Click here to display 39 evidence detail records.
HumanVANGL257216VANGL planar cell polarity protein 2
INFERRED
HumanMYO15A51168myosin XVA
Click here to display 39 evidence detail records.
HumanDFNB3125861deafness, autosomal recessive 31
INFERRED
HumanFSCN225794fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
INFERRED
HumanCLDN1423562claudin 14
Click here to display 39 evidence detail records.
HumanTRIOBP11078TRIO and F-actin binding protein
Click here to display 39 evidence detail records.
HumanSEC24B10427SEC24 family, member B (S. cerevisiae)
INFERRED
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
Click here to display 39 evidence detail records.
HumanSYNJ28871synaptojanin 2
INFERRED
HumanFZD68323frizzled family receptor 6
INFERRED
HumanMKKS8195McKusick-Kaufman syndrome
INFERRED
HumanNR2F17025nuclear receptor subfamily 2, group F, member 1
INFERRED
HumanRDX5962radixin
Click here to display 39 evidence detail records.
HumanPTK75754protein tyrosine kinase 7
INFERRED
HumanPOU4F35459POU class 4 homeobox 3
INFERRED
HumanSLC26A45172solute carrier family 26 (anion exchanger), member 4
INFERRED
HumanMYO7A4647myosin VIIA
Click here to display 39 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004532abnormal inner hair cell stereociliary bundle morphology0self