Hadha^em1Mbg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hadha^em1Mbg
• Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; endonuclease-mediated mutation 1, Melanie B Gillingham
• MGI ID: MGI:7266257
• Synonyms: Hadha^{em1(G1528C)Ohsu}
• Gene: Hadha Location: Chr5:30324421-30359978 bp, - strand Genetic Position: Chr5, 15.95 cM
• Alliance: Hadha^em1Mbg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission:
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C change at position 1528 (c.G1528C) resulting in a glutamic acid to glutamine substitution at amino acid 510 (p.E510Q) in exon 15. A silent mutation (ACC to ACG) was also introduced to the PAM sequence to prevent recutting by sgRNA. E510Q is in the LCHAD active site of the protein identical to that seen in human patients with Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). (J:370486)

Expression

In Structures Affected by this Mutation:

7 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 Hadha Mutation: 33 strains or lines available

References

• Original: J:370486 Gaston G, et al., A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Commun Biol. 2023 Aug 29;6(1):890
• All: 1 reference(s)