Symbol Name ID |
Aldh5a1
aldhehyde dehydrogenase family 5, subfamily A1 MGI:2441982 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Elevated circulating gamma-aminobutyric acid concentration |
Elevated circulating 4-hydroxybutyric acid concentration |
Elevated urinary 3,4-Dihydroxybutyric acid level |
Elevated CSF 4-hydroxybutyric acid concentration |
Elevated CSF gamma-aminobutyric acid concentration |
Decreased tissue succinic semialdehyde dehydrogenase activity |
Increased level of gamma-aminobutyric acid in urine |
Elevated urinary 4-hydroxybutyric acid |
Disease(s) Associated with ALDH5A1 | ||||||||
succinic semialdehyde dehydrogenase deficiency |
Mouse Phenotypes | homeostasis/metabolism phenotype |
abnormal amino acid level |
increased beta-alanine level |
increased gamma-aminobutyric acid level |
increased urine gamma-aminobutyric acid level |
decreased glutamine level |
|
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 12/10/2024 MGI 6.24 |
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