abnormal optic fissure closure Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas (Mammalian Phenotype Ontology, MP_0012535)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012535
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9 gene mutations causing the abnormal optic fissure closure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARHGAP35 Rho GTPase activating protein 35
GDF11 growth differentiation factor 11
KDM2B lysine (K)-specific demethylase 2B
MITF microphthalmia-associated transcription factor
PAX2 paired box 2
PITX2 paired-like homeodomain 2
RPL24 ribosomal protein L24
RPS7 ribosomal protein S7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)