Ckb^em1Nnb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ckb^em1Nnb
• Name: creatine kinase, brain; endonuclease-mediated mutation 1, Namandje N Bumpus
• MGI ID: MGI:7646843
• Synonyms: Ckb^tm1Nnb
• Gene: Ckb Location: Chr12:111635795-111638772 bp, - strand Genetic Position: Chr12, 61.09 cM
• Alliance: Ckb^em1Nnb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 was used to target the start codon of the Ckb gene, which resulted in two mutations on the same allele, a 55 base pair deletion that spanned 12 base pairs of intron 1 and 43 base pairs of exon 2, including the start codon, and a 28 base pair deletion beginning 134 base pairs into exon 2. These deletions resulted in a new 3' splice site, a new out-of-frame start codon, and the absence of any mutation-induced alternative splicing. Although significantly lower mRNA was detected by PCR in the brain, the total protein knockout was confirmed in brain lysates by immunoblot using an antibody specific to the C-terminus. (J:349007)

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 Ckb Mutation: 23 strains or lines available

References

• Original: J:349007 Eberhard CD, et al., Tenofovir Activation Is Diminished in the Brain and Liver of Creatine Kinase Brain-Type Knockout Mice. ACS Pharmacol Transl Sci. 2024 Jan 12;7(1):222-235
• All: 1 reference(s)