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Tbk1em3Lutzy
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Tbk1em3Lutzy
Name: TANK-binding kinase 1; endonuclease-mediated mutation 3, Cathy Lutz
MGI ID: MGI:6295414
Synonyms: Tbk1G217R
Gene: Tbk1  Location: Chr10:121546455-121586787 bp, - strand  Genetic Position: Chr10, 69.84 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/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:  19 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory