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Symbol
Name
ID
Pomt1
protein-O-mannosyltransferase 1
MGI:2138994
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Megalocornea
Corneal opacity
Cataract
Developmental cataract
Buphthalmos
Peters anomaly
Optic atrophy
Optic nerve hypoplasia
Retinal atrophy
Retinal detachment
Retinal dysplasia
Retinal dystrophy
Microphthalmia
Coloboma
Myopia
Blindness
Glaucoma
Disease(s) Associated with POMT1
congenital muscular dystrophy-dystroglycanopathy type A1
muscular dystrophy-dystroglycanopathy type B1

Mouse Phenotypes
abnormal retina bipolar cell morphology
thin retina outer nuclear layer
abnormal retina outer plexiform layer morphology
thin retina outer plexiform layer
increased b-wave implicit time
decreased b-wave amplitude
abnormal vision
Availability Mouse Genotype
Pomt1tm1c(EUCOMM)Hmgu/Pomt1tm1c(EUCOMM)Hmgu
Tg(Crx-cre)1Tfur/0  (conditional)

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