|
Symbol Name ID |
Aldh5a1
aldhehyde dehydrogenase family 5, subfamily A1 MGI:2441982 |
| Darker colors indicate more annotations |
| Human Phenotypes | Elevated CSF 4-hydroxybutyric acid concentration |
Elevated CSF gamma-aminobutyric acid concentration |
Delayed CNS myelination |
Cerebellar atrophy |
Ataxia |
EEG abnormality |
Delayed speech and language development |
Anxiety |
Psychosis |
Hallucinations |
Atypical behavior |
Autism |
Aggressive behavior |
Hyperactivity |
Self-injurious behavior |
Intellectual disability |
Hyporeflexia |
Hyperkinetic movements |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Generalized non-motor (absence) seizure |
Generalized myoclonic seizure |
Status epilepticus |
| Disease(s) Associated with ALDH5A1 | |||||||||||||||||||||||||
| succinic semialdehyde dehydrogenase deficiency |
| Mouse Phenotypes | myoclonus |
tonic seizures |
absence seizures |
gliosis |
abnormal brain wave pattern |
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| Availability | Mouse Genotype | |||||
| Aldh5a1tm1Kmg/Aldh5a1tm1Kmg | ||||||
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 |
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