Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Tbk1em6Lutzy
Name:	TANK-binding kinase 1; endonuclease-mediated mutation 6, Cathy Lutz
MGI ID:	MGI:6295381
Synonyms:	Tbk1R228H
Gene:	Tbk1  Location: Chr10:121382360-121422692 bp, - strand  Genetic Position: Chr10, 69.84 cM
Alliance:	Tbk1em6Lutzy page

Strain of Origin:

C57BL/6J

Allele Type:    Endonuclease-mediated (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: CRISPR/cas9 genome editing is used to introduce a CGG to CAT codon change resulting in the R228H amino acid substitution. In humans, the R228H substitution is associated with amyotrophic lateral sclerosis. (J:286396)

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

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)