|
Symbol Name ID |
Mcoln1
mucolipin 1 MGI:1890498 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cherry red spot of the macula |
Opacification of the corneal stroma |
Corneal opacity |
Cataract |
Optic atrophy |
Abnormality of retinal pigmentation |
Retinal degeneration |
Retinopathy |
Abnormal electroretinogram |
Decreased light- and dark-adapted electroretinogram amplitude |
Strabismus |
Nystagmus |
Photophobia |
Visual impairment |
Progressive visual loss |
| Disease(s) Associated with MCOLN1 | |||||||||||||||
| glycoproteinosis | |||||||||||||||
| mucolipidosis type IV |
| Mouse Phenotypes | abnormal optic nerve morphology |
thin retina inner nuclear layer |
thin retina inner plexiform layer |
abnormal retina outer nuclear layer morphology |
retina degeneration |
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| Availability | Mouse Genotype | |||||
| Mcoln1tm1Sasl/Mcoln1tm1Sasl | ||||||
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 05/07/2024 MGI 6.23 |
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