Aldh5a1^tm1Kmg
Targeted Allele Detail

Summary

• Symbol: Aldh5a1^tm1Kmg
• 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: Aldh5a1^tm1Kmg page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

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

Find Mice (IMSR)

• 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: 30 strains or lines available

References

• 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: 20 reference(s)