abnormal pons morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum (Mammalian Phenotype Ontology, MP_0000848)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000848
Similar Terms
Downloads & Tools


39 gene mutations causing the abnormal pons morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
ASCL1 achaete-scute family bHLH transcription factor 1
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CASP2 caspase 2, apoptosis-related cysteine peptidase
CLCF1 cardiotrophin-like cytokine factor 1
CNTFR ciliary neurotrophic factor receptor
DCC DCC netrin 1 receptor
GALC galactosylceramidase
GBX2 gastrulation brain homeobox 2
GRID2 glutamate receptor, ionotropic, delta 2
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXB2 homeobox B2
IL17RD interleukin 17 receptor D
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KIF2A kinesin heavy chain member 2A
LUZP1 leucine zipper protein 1
NAGLU N-acetylglucosaminidase, alpha
NFIB nuclear factor I/B
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NPC1 Niemann-Pick disease, type C1
NRP1 neuropilin 1
NTN1 netrin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIKFYVE phosphoinositide kinase, FYVE finger containing
RORA RAR-related orphan receptor A
SOD2 superoxide dismutase 2, mitochondrial
TOR1A torsin family 1, member A (torsin A)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAC14 Vac14 homolog (S. cerevisiae)
VEGFA vascular endothelial growth factor A