abnormal outer hair cell stereociliary bundle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description 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 (Mammalian Phenotype Ontology, MP_0004527)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004527
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Genes

47 gene mutations causing the abnormal outer hair cell stereociliary bundle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTG1 actin gamma 1
ADGRV1 adhesion G protein-coupled receptor V1
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLDN14 claudin 14
CLDN9 claudin 9
CLRN1 clarin 1
DFNB31 deafness, autosomal recessive 31
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FSCN2 fascin actin-bundling protein 2, retinal
GFI1 growth factor independent 1 transcription repressor
GRXCR1 glutaredoxin, cysteine rich 1
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LRP6 low density lipoprotein receptor-related protein 6
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MSRB3 methionine sulfoxide reductase B3
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
NR2F1 nuclear receptor subfamily 2, group F, member 1
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
POU4F3 POU class 4 homeobox 3
PTK7 protein tyrosine kinase 7 (inactive)
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
SEC24B SEC24 family member B
STRC stereocilin
SYNJ2 synaptojanin 2
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TRIOBP TRIO and F-actin binding protein
TSHR thyroid stimulating hormone receptor
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL2 VANGL planar cell polarity protein 2