midbrain hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description underdevelopment or reduced size, usually due to a reduced number of cells, of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes (Mammalian Phenotype Ontology, MP_0012090)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012090
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4 gene mutations causing the midbrain hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CCNF cyclin F
ERF Ets2 repressor factor
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
OTX2 orthodenticle homeobox 2