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Symbol
Name
ID
Sh3pxd2b
SH3 and PX domains 2B
MGI:2442062
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Megalocornea
Developmental glaucoma
Buphthalmos
Deeply set eye
Hypertelorism
Proptosis
Abnormally large globe
Disease(s) Associated with SH3PXD2B
Frank-Ter Haar syndrome

Mouse Phenotypes
hyphema
corneal vascularization
eye inflammation
hypopyon
retina ganglion cell degeneration
optic nerve cupping
optic nerve degeneration
optic nerve atrophy
abnormal iridocorneal angle
absent Schlemm's canal
absent trabecular meshwork
irregularly shaped pupil
anterior iris synechia
abnormal cornea morphology
decreased cornea thickness
increased cornea thickness
increased cornea size
corneal opacity
abnormal eye anterior chamber morphology
abnormal aqueous humor
increased eye anterior chamber depth
enlarged eye anterior chamber
cataract
mature cataract
posterior subcapsular cataract
exophthalmos
ocular hypertelorism
phthisis bulbi
abnormal retina morphology
abnormal retina nerve fiber layer morphology
decreased total retina thickness
ocular hypertension
Availability Mouse Genotype
Sh3pxd2bGt(GST_1527_E5)Lex/Sh3pxd2bGt(GST_1527_E5)Lex
Sh3pxd2bnee/Sh3pxd2bnee
Sh3pxd2btm1.1Arte/Sh3pxd2btm1.1Arte

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory