Symbol Name ID |
Ppt1
palmitoyl-protein thioesterase 1 MGI:1298204 |
Darker colors indicate more annotations |
Human Phenotypes | Optic atrophy |
Macular degeneration |
Retinal degeneration |
Decreased light- and dark-adapted electroretinogram amplitude |
Undetectable electroretinogram |
Blindness |
Progressive visual loss |
Disease(s) Associated with PPT1 | |||||||
neuronal ceroid lipofuscinosis 1 |
Mouse Phenotypes | decreased retina photoreceptor cell number |
decreased retina cone cell number |
abnormal retina cone bipolar cell morphology |
abnormal retina rod bipolar cell morphology |
retina ganglion cell degeneration |
retina photoreceptor degeneration |
abnormal retina neuronal layer morphology |
thin retina inner nuclear layer |
thin retina outer nuclear layer |
decreased total retina thickness |
retina deposits |
retina gliosis |
blindness |
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Availability | Mouse Genotype | |||||||||||||
Ppt1tm1Aj/Ppt1tm1Aj | ||||||||||||||
Ppt1tm1Hof/Ppt1tm1Hof |
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 04/09/2024 MGI 6.23 |
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