abnormal crista ampullaris morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass (Mammalian Phenotype Ontology, MP_0004249)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004249
Similar Terms
Downloads & Tools


28 gene mutations causing the abnormal crista ampullaris morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BDNF brain-derived neurotrophic factor
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CHD7 chromodomain helicase DNA binding protein 7
DLX5 distal-less homeobox 5
ESPN espin
FGF10 fibroblast growth factor 10
GBX2 gastrulation brain homeobox 2
GRXCR1 glutaredoxin, cysteine rich 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
JAG1 jagged 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LOC102723475 putative uncharacterized protein LOC388820
MCOLN3 mucolipin 3
MYO6 myosin VI
NAGLU N-acetylglucosaminidase, alpha
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OTOG otogelin
POU4F3 POU class 4 homeobox 3
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLITRK6 SLIT and NTRK-like family, member 6
SRRM4 serine/arginine repetitive matrix 4
TBX10 T-box 10
ZEB1 zinc finger E-box binding homeobox 1