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Symbol
Name
ID

Aldh5a1
aldhehyde dehydrogenase family 5, subfamily A1
MGI:2441982

Phenotype annotations related to homeostasis/metabolism

*	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 CSF 4-hydroxybutyric acid concentration	Elevated CSF gamma-aminobutyric acid concentration	Decreased tissue succinic semialdehyde dehydrogenase activity	Elevated urinary 4-hydroxybutyric acid	Increased level of gamma-aminobutyric acid in urine
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
	Aldh5a1^tm1Kmg/Aldh5a1^tm1Kmg	*

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)
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