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Symbol
Name
ID
Pex1
peroxisomal biogenesis factor 1
MGI:1918632
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Opacification of the corneal stroma
Cataract
Brushfield spots
Optic atrophy
Optic disc pallor
Macular dystrophy
Pigmentary retinopathy
Retinal pigment epithelial mottling
Rod-cone dystrophy
Hypertelorism
Abnormal electroretinogram
Nystagmus
Glaucoma
Disease(s) Associated with PEX1
Heimler syndrome 1
peroxisome biogenesis disorder 1A
peroxisome biogenesis disorder 1B

Mouse Phenotypes
abnormal retina rod cell outer segment morphology
retina cone cell degeneration
abnormal cone electrophysiology
abnormal rod electrophysiology
Availability Mouse Genotype
Pex1tm1.1Sjms/Pex1tm1.1Sjms

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
04/30/2024
MGI 6.23
The Jackson Laboratory