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Symbol
Name
ID
Ppt1
palmitoyl-protein thioesterase 1
MGI:1298204
Phenotype annotations related to vision/eye
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
Availability Mouse Genotype
Ppt1tm1Aj/Ppt1tm1Aj
Ppt1tm1Hof/Ppt1tm1Hof

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
04/09/2024
MGI 6.23
The Jackson Laboratory