abnormal cochlear 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 pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells (Mammalian Phenotype Ontology, MP_0004521)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004521
Similar Terms
Downloads & Tools

Genes

65 gene mutations causing the abnormal cochlear 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
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
DCHS1 dachsous cadherin-related 1
DFNB31 deafness, autosomal recessive 31
DVL3 dishevelled segment polarity protein 3
ELMOD1 ELMO/CED-12 domain containing 1
EPS8 epidermal growth factor receptor pathway substrate 8
EPS8L2 EPS8-like 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
GFI1 growth factor independent 1 transcription repressor
GRXCR1 glutaredoxin, cysteine rich 1
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
JAG2 jagged 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LRP6 low density lipoprotein receptor-related protein 6
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MIR96 microRNA 96
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
OTOF otoferlin
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
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SLC26A4 solute carrier family 26 (anion exchanger), member 4
STRC stereocilin
SYNJ2 synaptojanin 2
TECTA tectorin alpha
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)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2