abnormal third ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina (Mammalian Phenotype Ontology, MP_0000826)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000826
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57 gene mutations causing the abnormal third ventricle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APAF1 apoptotic peptidase activating factor 1
ARHGAP35 Rho GTPase activating protein 35
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARX aristaless related homeobox
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATXN1L ataxin 1-like
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
CASP9 caspase 9, apoptosis-related cysteine peptidase
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CHD7 chromodomain helicase DNA binding protein 7
COL18A1 collagen, type XVIII, alpha 1
DHCR7 7-dehydrocholesterol reductase
DLG5 discs, large homolog 5 (Drosophila)
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
E2F5 E2F transcription factor 5, p130-binding
EMX2 empty spiracles homeobox 2
FOXC1 forkhead box C1
FZD3 frizzled class receptor 3
HSF1 heat shock transcription factor 1
HSF2 heat shock transcription factor 2
HTT huntingtin
MAP1B microtubule-associated protein 1B
MBOAT7 membrane bound O-acyltransferase domain containing 7
MKKS McKusick-Kaufman syndrome
MSX1 msh homeobox 1
MYH10 myosin, heavy chain 10, non-muscle
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NEK1 NIMA-related kinase 1
NFIA nuclear factor I/A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NME7 NME/NM23 family member 7
NPAS3 neuronal PAS domain protein 3
OPHN1 oligophrenin 1
OTP orthopedia homeobox
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PFDN5 prefoldin subunit 5
PKD1 polycystic kidney disease 1 (autosomal dominant)
PSEN1 presenilin 1
RB1 retinoblastoma 1
RND3 Rho family GTPase 3
SCRIB scribbled planar cell polarity protein
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAG6 sperm associated antigen 6
UCHL5 ubiquitin carboxyl-terminal hydrolase L5
ULK4 unc-51 like kinase 4
USP18 ubiquitin specific peptidase 18
VANGL2 VANGL planar cell polarity protein 2
ZIC5 Zic family member 5