Tbk1^em3Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbk1^em3Lutzy
• Name: TANK-binding kinase 1; endonuclease-mediated mutation 3, Cathy Lutz
• MGI ID: MGI:6295414
• Synonyms: Tbk1^G217R
• Gene: Tbk1 Location: Chr10:121382360-121422692 bp, - strand Genetic Position: Chr10, 69.84 cM
• Alliance: Tbk1^em3Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 genome editing is used to introduce a GGG to AGG codon change resulting in a G217R amino acid substitution. In humans, the G217R substitution is associated with amyotrophic lateral sclerosis. (J:286396)

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 Tbk1 Mutation: 54 strains or lines available

References

• Original: J:286396 Gerbino V, et al., The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice. Neuron. 2020 Mar 23
• All: 1 reference(s)