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Targeted Allele Detail
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: Chr13:24907579-24937661 bp, - strand  Genetic Position: Chr13, 10.77 cM
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 detailsA 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).
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:  13 strains or lines available
Phenotypic Similarity to Human Syndrome: Epilepsy (J:91856)
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:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.10
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