absent diencephalon Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex (Mammalian Phenotype Ontology, MP_0012517)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012517
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Genes

5 gene mutations causing the absent diencephalon phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CNBP CCHC-type zinc finger, nucleic acid binding protein
DKK1 dickkopf WNT signaling pathway inhibitor 1
OTX2 orthodenticle homeobox 2
SHH sonic hedgehog
SSBP3 single stranded DNA binding protein 3