abnormal inner 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 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 (Mammalian Phenotype Ontology, MP_0004532)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004532
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Genes

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

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
ATOH1 atonal homolog 1 (Drosophila)
CDH23 cadherin-related 23
CLDN14 claudin 14
DFNB31 deafness, autosomal recessive 31
EPS8L2 EPS8-like 2
ESPN espin
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
IGF1R insulin-like growth factor 1 receptor
JAG2 jagged 2
MKKS McKusick-Kaufman syndrome
MYO6 myosin VI
MYO7A myosin VIIA
NR2F1 nuclear receptor subfamily 2, group F, member 1
PCDH15 protocadherin-related 15
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SYNJ2 synaptojanin 2
TMPRSS3 transmembrane protease, serine 3
TRIOBP TRIO and F-actin binding protein
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL2 VANGL planar cell polarity protein 2