Symbol Name ID |
Large1
LARGE xylosyl- and glucuronyltransferase 1 MGI:1342270 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Posterior synechiae of the anterior chamber |
Developmental cataract |
Optic atrophy |
Pigmentary retinopathy |
Retinal dysplasia |
Decreased light- and dark-adapted electroretinogram amplitude |
Horizontal nystagmus |
Disease(s) Associated with LARGE1 | |||||||
congenital muscular dystrophy-dystroglycanopathy type A6 | |||||||
muscular dystrophy-dystroglycanopathy type B6 |
Mouse Phenotypes | abnormal retina vasculature morphology |
abnormal retina layer morphology |
abnormal retina neuronal layer morphology |
abnormal retina ganglion layer morphology |
disorganized retina ganglion layer |
abnormal retina inner nuclear layer morphology |
thin retina inner nuclear layer |
thin retina outer nuclear layer |
abnormal retina outer plexiform layer morphology |
disorganized retina outer plexiform layer |
thin retina outer plexiform layer |
abnormal vitreous body morphology |
vitreal fibroplasia |
vitreous body deposition |
abnormal eye electrophysiology |
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Availability | Mouse Genotype | |||||||||||||||
Large1myd-3J/Large1myd-3J | ||||||||||||||||
Large1myd/Large1myd | ||||||||||||||||
Large1vls/Large1vls | ! |
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 03/12/2024 MGI 6.23 |
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