absent optic vesicle Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop (Mammalian Phenotype Ontology, MP_0006294)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006294
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Genes

7 gene mutations causing the absent optic vesicle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DKK1 dickkopf WNT signaling pathway inhibitor 1
FOLR1 folate receptor 1 (adult)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
OTX2 orthodenticle homeobox 2
RAX retina and anterior neural fold homeobox
SIX3 SIX homeobox 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
Funding