|
Symbol Name ID |
Aspa
aspartoacylase MGI:87914 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Increased CSF N-acetylaspartic acid concentration |
Opisthotonus |
CNS demyelination |
Brain atrophy |
Abnormal pyramidal sign |
Multifocal epileptiform discharges |
Hypsarrhythmia |
Elevated brain N-acetyl aspartate level by MRS |
Developmental regression |
Global developmental delay |
Bilateral tonic-clonic seizure |
Epileptic spasm |
| Disease(s) Associated with ASPA | |||||||||||||
| Canavan disease |
| Mouse Phenotypes | seizures |
abnormal brain morphology |
enlarged lateral ventricles |
abnormal brain white matter morphology |
abnormal brainstem morphology |
abnormal diencephalon morphology |
brain vacuoles |
astrocytosis |
abnormal oligodendrocyte morphology |
gliosis |
axon degeneration |
spongiform encephalopathy |
abnormal myelination |
demyelination |
decreased prepulse inhibition |
abnormal synaptic neurotransmitter level |
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| Availability | Mouse Genotype | ||||||||||||||||
| Aspadeaf14/Aspadeaf14 | |||||||||||||||||
| Aspanur7/Aspanur7 | |||||||||||||||||
| Aspatm1a(EUCOMM)Wtsi/Aspatm1a(EUCOMM)Wtsi | |||||||||||||||||
| Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi | |||||||||||||||||
| Aspatm1Mata/Aspatm1Mata | |||||||||||||||||
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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