Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Aldh5a1tm1Kmg
Name:	aldhehyde dehydrogenase family 5, subfamily A1; targeted mutation 1, K Michael Gibson
MGI ID:	MGI:2180159
Synonyms:	Aldh5a1-, SSADH-, SSADH-deficient
Gene:	Aldh5a1  Location: Chr13:25091562-25121644 bp, - strand  Genetic Position: Chr13, 10.77 cM
Alliance:	Aldh5a1tm1Kmg page

Germline Transmission:	Earliest citation of germline transmission: J:71949
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/Sv

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 1.65-kb neomycin cassette was used to replace 844 nucleotides comprising most of exon 7 and encoding the active site of the protein. Biochemical assays confirmed the ablation of enzymatic activity in the brains, livers, hearts, and kidneys of homozygous mutant mice. (J:71949)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Aldh5a1 Mutation:	29 strains or lines available

Original:	J:71949 Hogema BM, et al., Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001 Oct;29(2):212-6
All:	19 reference(s)