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Symbol
Name
ID
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MGI:3643902
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Opacification of the corneal stroma
Megalocornea
Hyperopic astigmatism
Corneal opacity
Retinal degeneration
Retinopathy
Hypertelorism
Visual impairment
Disease(s) Associated with GNPTAB
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta

Mouse Phenotypes
retina photoreceptor degeneration
cataract
thick eyelids
abnormal retina photoreceptor layer morphology
retina degeneration
abnormal vitreous body morphology
abnormal eye electrophysiology
Availability Mouse Genotype
GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex
Gnptabnym/Gnptabnym
Gnptabem1(IMPC)Mbp/Gnptab+

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
05/28/2024
MGI 6.13
The Jackson Laboratory