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Symbol
Name
ID
Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270
Phenotype annotations related to vision/eye
!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
Availability Mouse Genotype
Large1myd-3J/Large1myd-3J
Large1myd/Large1myd
Large1vls/Large1vls !

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
03/12/2024
MGI 6.23
The Jackson Laboratory