Aldh2^tm1Dmro
Targeted Allele Detail

Summary

• Symbol: Aldh2^tm1Dmro
• Name: aldehyde dehydrogenase 2, mitochondrial; targeted mutation 1, Daria Mochly-Rosen
• MGI ID: MGI:5608796
• Synonyms: ALDH2*2, Aldh2 KI
• Gene: Aldh2 Location: Chr5:121704090-121731887 bp, - strand Genetic Position: Chr5, 61.86 cM, cytoband F-G1
• Alliance: Aldh2^tm1Dmro page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:215904
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Glutamic acid codon 506 (487 in mature peptide) (GAA) in exon 12 was changed to lysine (AAA) (p.E506K) and a neomycin resistance gene cassette was inserted downstream of last exon 13. The mutation is the equivalent of the human p.E504K mutation, prevalent in East Asians, associated with metabolic disorders and increased sensitivity to pain. Isoelectric focusing gel electrophoresis and Western blot confirmed the expression of the mutant protein. Protein levels and enzymatic activity in heterozygous mice are reduced. (J:215904)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Aldh2 Mutation: 35 strains or lines available

References

• Original: J:215904 Zambelli VO, et al., Aldehyde dehydrogenase-2 regulates nociception in rodent models of acute inflammatory pain. Sci Transl Med. 2014 Aug 27;6(251):251ra118
• All: 10 reference(s)