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Allele : Tbk1<em6Lutzy> TANK-binding kinase 1; endonuclease-mediated mutation 6, Cathy Lutz

Primary Identifier	MGI:6295381	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Tbk1
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

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.

mutations:
Nucleotide substitutions

synonyms:
Tbk1<R228H>,
Tbk1<R228H>

earliestPublication:
Gerbino V, et al. (2020) The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice. Neuron

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

2 Publication categories

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