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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
Pigmentary retinopathy
Retinal atrophy
Retinal detachment
Retinal dysplasia
Retinal dystrophy
Optic atrophy
Optic nerve hypoplasia
Microphthalmia
Coloboma
Strabismus
Nystagmus
Myopia
Blindness
Glaucoma
Ptosis
Disease(s) Associated with POMT1
congenital muscular dystrophy-dystroglycanopathy type A1
muscular dystrophy-dystroglycanopathy

Mouse Phenotypes
abnormal retinal bipolar cell morphology
thin retinal outer nuclear layer
abnormal retinal outer plexiform layer morphology
thin retinal 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
02/16/2021
MGI 6.16
The Jackson Laboratory