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Details
Link-It Detail - Jax Mouse Phenotype - abnormal vestibular hair cell morphology
Debug Stats
  • ### Total Build Time: 84 ms 59.767 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 408 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 548 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 199 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 1.035 KB
  • CONCEPT_CHILDREN gt=19 ms Completed: 19 ms rowSize= 3.387 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 5.624 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 47.271 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal vestibular hair cell morphology MP:0002623
Definition (1)
any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae
Synonyms (1)
"abnormal vestibular hair cells morphology" EXACT
Parents (2)
img abnormal inner ear vestibule morphology MP:0000034
img abnormal hair cell morphology MP:0000045
Children (7)
img abnormal vestibular hair cell stereociliary bundle morphology MP:0004515
img abnormal vestibular hair cell kinocilium morphology MP:0011064
img abnormal vestibular hair cell number MP:0004326
img abnormal type I vestibular cell MP:0004428
img abnormal type II vestibular cells MP:0004429
img abnormal vestibular hair cell development MP:0004588
img vestibular hair cell degeneration MP:0004324
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053776img abnormal inner ear vestibule morphology MP:0000034
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036319img abnormal hair cell morphology MP:0000045
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036318img abnormal hair cell morphology MP:0000045
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053776img abnormal hair cell morphology MP:0000045
Genes (34)

Species:
human : 34
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGRXCR1389207glutaredoxin, cysteine rich 1
INFERRED
HumanHES5388585hairy and enhancer of split 5 (Drosophila)
INFERRED
HumanPTPRQ374462protein tyrosine phosphatase, receptor type, Q
INFERRED
HumanHMX3340784H6 family homeobox 3
INFERRED
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED
HumanSRRM484530serine/arginine repetitive matrix 4
img Jax MP, Pubmed Id: 23100430, MOUSE PHENOTYPE ID: MGI:102523
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 15843406, MOUSE PHENOTYPE ID: MGI:3699593
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 15283975, MOUSE PHENOTYPE ID: MGI:1316660
img Jax MP, Pubmed Id: 3986619, MOUSE PHENOTYPE ID: MGI:1916205
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 16648263, MOUSE PHENOTYPE ID: MGI:3639350
HumanTMPRSS364699transmembrane protease, serine 3
INFERRED
HumanCDH2364072cadherin-related 23
INFERRED
HumanVANGL257216VANGL planar cell polarity protein 2
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 15283975, MOUSE PHENOTYPE ID: MGI:1316660
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 16648263, MOUSE PHENOTYPE ID: MGI:3639350
img Jax MP, Pubmed Id: 3986619, MOUSE PHENOTYPE ID: MGI:1916205
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 15843406, MOUSE PHENOTYPE ID: MGI:3699593
img Jax MP, Pubmed Id: 23100430, MOUSE PHENOTYPE ID: MGI:102523
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
HumanCLIC553405chloride intracellular channel 5
INFERRED
HumanCACNG210369calcium channel, voltage-dependent, gamma subunit 2
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 16648263, MOUSE PHENOTYPE ID: MGI:3639350
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 23100430, MOUSE PHENOTYPE ID: MGI:102523
img Jax MP, Pubmed Id: 3986619, MOUSE PHENOTYPE ID: MGI:1916205
img Jax MP, Pubmed Id: 15843406, MOUSE PHENOTYPE ID: MGI:3699593
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 15283975, MOUSE PHENOTYPE ID: MGI:1316660
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
INFERRED
HumanITGA88516integrin, alpha 8
INFERRED
HumanSOX26657SRY (sex determining region Y)-box 2
INFERRED
HumanPOU4F35459POU class 4 homeobox 3
img Jax MP, Pubmed Id: 15283975, MOUSE PHENOTYPE ID: MGI:1316660
img Jax MP, Pubmed Id: 16648263, MOUSE PHENOTYPE ID: MGI:3639350
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 15843406, MOUSE PHENOTYPE ID: MGI:3699593
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 23100430, MOUSE PHENOTYPE ID: MGI:102523
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 3986619, MOUSE PHENOTYPE ID: MGI:1916205
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
HumanSLC26A45172solute carrier family 26 (anion exchanger), member 4
INFERRED
HumanNTRK24915neurotrophic tyrosine kinase, receptor, type 2
INFERRED
HumanMYO7A4647myosin VIIA
INFERRED
HumanMYO64646myosin VI
INFERRED
HumanLAMA23908laminin, alpha 2
INFERRED
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
INFERRED
HumanKCNQ13784potassium voltage-gated channel, KQT-like subfamily, member 1
INFERRED
HumanKCNJ103766potassium inwardly-rectifying channel, subfamily J, member 10
INFERRED
HumanHMX23167H6 family homeobox 2
INFERRED
HumanGFI12672growth factor independent 1 transcription repressor
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 15283975, MOUSE PHENOTYPE ID: MGI:1316660
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
img Jax MP, Pubmed Id: 3986619, MOUSE PHENOTYPE ID: MGI:1916205
img Jax MP, Pubmed Id: 15843406, MOUSE PHENOTYPE ID: MGI:3699593
img Jax MP, Pubmed Id: 23100430, MOUSE PHENOTYPE ID: MGI:102523
img Jax MP, Pubmed Id: 12441305, MOUSE PHENOTYPE ID: MGI:103170
img Jax MP, Pubmed Id: 16648263, MOUSE PHENOTYPE ID: MGI:3639350
img Jax MP, Pubmed Id: 22363783, MOUSE PHENOTYPE ID: MGI:2135272
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0002623abnormal vestibular hair cell morphology0self