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Symbol
Name
ID
Psap
prosaposin
MGI:97783
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Optic atrophy
Abnormality of eye movement
Supranuclear gaze palsy
Horizontal nystagmus
Diplopia
Ptosis
Disease(s) Associated with PSAP
atypical Gaucher's disease due to saposin c deficiency
combined saposin deficiency
late onset Parkinson's disease

Mouse Phenotypes
abnormal eye morphology
abnormal cornea stroma morphology
Availability Mouse Genotype
Psaptm1Suz/Psaptm1Suz

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