abnormal optic cup morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye (Mammalian Phenotype Ontology, MP_0004269)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004269
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13 gene mutations causing the abnormal optic cup morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
BRD1 bromodomain containing 1
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
GLI3 GLI family zinc finger 3
HESX1 HESX homeobox 1
MITF microphthalmia-associated transcription factor
PAX6 paired box 6
PHC1 polyhomeotic homolog 1 (Drosophila)
RAB23 RAB23, member RAS oncogene family
RAX retina and anterior neural fold homeobox
RPL24 ribosomal protein L24
SHH sonic hedgehog
VSX2 visual system homeobox 2