Symbol Name ID |
Pex1
peroxisomal biogenesis factor 1 MGI:1918632 |
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 |
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Availability | Mouse Genotype | ||||
Pex1tm1.1Sjms/Pex1tm1.1Sjms |
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 09/03/2024 MGI 6.24 |
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