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Symbol
Name
ID
Psap
prosaposin
MGI:97783
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Elevated serum acid phosphatase
Hypocholesterolemia
Abnormal glycosphingolipid metabolism
Disease(s) Associated with PSAP
atypical Gaucher's disease due to saposin c deficiency
combined saposin deficiency

Mouse Phenotypes
homeostasis/metabolism phenotype
enhanced autophagy
amyloid beta deposits
abnormal circulating testosterone level
abnormal enzyme/coenzyme level
increased beta-galactosidase level
abnormal lipid homeostasis
abnormal lipid level
abnormal urine homeostasis
abnormal enzyme/coenzyme activity
Availability Mouse Genotype
Psaptm1Ggb/Psaptm1Ggb
Psaptm1Suz/Psaptm1Suz *
Psaptm2.1Juma/Psaptm2.1Juma *
Psaptm2Ggb/Psaptm2Ggb
Psaptm2Suz/Psaptm2Suz *
Psaptm4.1Ggb/Psaptm4.1Ggb
Psaptm1Suz/Psaptm2.1Juma *

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
03/19/2024
MGI 6.23
The Jackson Laboratory