About   Help   FAQ
Symbol
Name
ID 		Psap
prosaposin
MGI:97783
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Hyposmia
Orthostatic hypotension due to autonomic dysfunction
Dysphagia
Frequent falls
Gliosis
Substantia nigra gliosis
CNS demyelination
Cerebral cortical atrophy
Hypoplasia of the corpus callosum
Abnormal periventricular white matter morphology
Lewy bodies
Increased cerebral lipofuscin
Neuronal loss in central nervous system
Bradykinesia
Parkinsonism
Parkinsonism with favorable response to dopaminergic medication
Fasciculations
Myoclonus
Tremor
Intention tremor
Resting tremor
Babinski sign
Abducens palsy
Monotonic speech
Dysarthria
Depression
Low frustration tolerance
Schizophrenia
Hallucinations
Visual hallucination
Apathy
Personality changes
Impulsivity
Agitation
Mental deterioration
Dementia
Micrographia
Sleep abnormality
Akinesia
Dyskinesia
Dystonia
Shuffling gait
Short stepped shuffling gait
Hyperkinetic movements
Postural instability
Developmental regression
Seizure
Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure with focal onset
Generalized clonic seizure
Clonic seizure
Status epilepticus
Abnormal autonomic nervous system physiology
Disease(s) Associated with PSAP
atypical Gaucher's disease due to saposin c deficiency
combined saposin deficiency
late onset Parkinson's disease

Mouse Phenotypes
nervous system phenotype
seizures
tonic seizures
abnormal cochlear inner hair cell morphology
abnormal cochlear IHC afferent innervation pattern
abnormal cochlear IHC efferent innervation pattern
abnormal cochlear OHC efferent innervation pattern
cochlear outer hair cell degeneration
abnormal cochlear outer hair cell physiology
microgliosis
abnormal microglial cell physiology
amyloid beta deposits
CNS inflammation
abnormal nervous system morphology
abnormal enteric ganglia morphology
abnormal choroid plexus morphology
abnormal brain white matter morphology
abnormal brainstem morphology
abnormal forebrain morphology
abnormal hippocampus granule cell layer
abnormal telencephalon morphology
abnormal cerebellum morphology
Purkinje cell degeneration
decreased Purkinje cell number
abnormal cerebellar granule layer morphology
abnormal cerebellar granule cell morphology
decreased cerebellar granule cell number
abnormal cerebellar molecular layer
small cerebellum
abnormal astrocyte morphology
astrocytosis
abnormal Schwann cell morphology
abnormal innervation
neurogenic bladder
abnormal neuron morphology
abnormal axon morphology
abnormal myelin sheath morphology
neuron degeneration
neuronal intranuclear inclusions
abnormal dorsal root ganglion morphology
abnormal ventral spinal root morphology
abnormal spinal cord morphology
increased spinal cord size
nervous system inclusion bodies
axon degeneration
axonal spheroids
abnormal nervous system physiology
abnormal myelination
demyelination
abnormal neuron physiology
reduced long-term potentiation
Availability Mouse Genotype
Psaptm1Ggb/Psaptm1Ggb *
Psaptm1Juma/Psaptm1Juma
Psaptm1Suz/Psaptm1Suz
Psaptm2.1Juma/Psaptm2.1Juma
Psaptm2Ggb/Psaptm2Ggb *
Psaptm2Suz/Psaptm2Suz
Psaptm3.1Ggb/Psaptm3.1Ggb
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory