abnormal midbrain-hindbrain boundary morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate (Mammalian Phenotype Ontology, MP_0012132)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012132
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Genes

15 gene mutations causing the abnormal midbrain-hindbrain boundary morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CASP9 caspase 9, apoptosis-related cysteine peptidase
CXORF56 chromosome X open reading frame 56
GBX2 gastrulation brain homeobox 2
GLI3 GLI family zinc finger 3
HESX1 HESX homeobox 1
HIRA histone cell cycle regulator
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
LDB1 LIM domain binding 1
LMX1B LIM homeobox transcription factor 1, beta
LRP6 low density lipoprotein receptor-related protein 6
MID1 midline 1
OTX2 orthodenticle homeobox 2
PAX2 paired box 2
SSBP3 single stranded DNA binding protein 3
WNT1 wingless-type MMTV integration site family, member 1