Symbol Name ID |
Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal MGI:98325 |
Darker colors indicate more annotations |
Human Phenotypes | Spasticity |
Delayed CNS myelination |
Athetosis |
Irritability |
Mental deterioration |
Intellectual disability |
Hyporeflexia |
Inability to walk |
Developmental regression |
Global developmental delay |
Disease(s) Associated with SMPD1 | ||||||||||
Niemann-Pick disease type A | ||||||||||
Niemann-Pick disease type B |
Mouse Phenotypes | abnormal neuron differentiation |
decreased brain size |
abnormal choroid plexus morphology |
midbrain atrophy |
abnormal cerebral cortex morphology |
Purkinje cell degeneration |
cerebellum atrophy |
gliosis |
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Availability | Mouse Genotype | ||||||||
Smpd1tm1Esc/Smpd1tm1Esc | |||||||||
Smpd1tm1Wst/Smpd1tm1Wst | |||||||||
Hprt1tm1.1(CAG-Smpd1)Jhkh/Hprt1+ |
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 04/23/2024 MGI 6.23 |
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