abnormal vestibular saccular macula morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies (Mammalian Phenotype Ontology, MP_0004330)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004330
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18 gene mutations causing the abnormal vestibular saccular macula morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATF2 activating transcription factor 2
ATG4B autophagy related 4B, cysteine peptidase
CDH23 cadherin-related 23
DLX5 distal-less homeobox 5
ESPN espin
GBX2 gastrulation brain homeobox 2
GRXCR1 glutaredoxin, cysteine rich 1
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
LOC102723475 putative uncharacterized protein LOC388820
MYO6 myosin VI
MYO7A myosin VIIA
PAX2 paired box 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
USH1G Usher syndrome 1G (autosomal recessive)