Bdh1^em2Fkao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bdh1^em2Fkao
• Name: 3-hydroxybutyrate dehydrogenase, type 1; endonuclease-mediated mutation 2, Toshiyuki Fukao
• MGI ID: MGI:7524568
• Gene: Bdh1 Location: Chr16:31241115-31277719 bp, + strand Genetic Position: Chr16, 21.74 cM
• Alliance: Bdh1^em2Fkao page

Mutation origin

• Strain of Origin: C57BL/6N x (C57BL/6J x DBA/2J)

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• CRISPR targeting produced a 64 bp deletion in the exon containing translation initiation codon. (J:307715)
• Inheritance: Not Specified

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 Bdh1 Mutation: 31 strains or lines available

References

• Original: J:307715 Otsuka H, et al., Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting. J Inherit Metab Dis. 2020 Sep;43(5):960-968
• All: 1 reference(s)