This CRISPR/Cas9 generated knock-in Tbk1 R228H knock-in mutant of the Tbk1 gene carries a CGG->CAT codon change, resulting in the R228H point mutation. This strain may be useful in studies related to inflammatory response regulation, autophagy, and frontotemporal dementia and/or amyotrophic lateral sclerosis 4.
Cathleen Lutz, The Jackson Laboratory
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Endonuclease-mediated (Humanized sequence) | Tbk1 | TANK-binding kinase 1 |
CRISPR/cas9 endonuclease mediated genome editing of the Tbk1, TANK-binding kinase 1, gene was used to introduce a CGG->CAT codon change (R228H point mutation). The targeted Tbk1 gene encodes a serine/threonine kinase that is involved in inflammatory response regulation and autophagy. Mutations in this gene have been associated with frontotemporal dementia and/or amyotrophic lateral sclerosis 4. Homozygous mice are viable and fertile. As the mice are characterized, we will modify the strain description and add phenotype data.
CRISPR/cas9 endonuclease mediated R228H knock-in point mutation of Tbk1. Plasmids encoding a signal guide RNA designed to introduce the CGG->CAT codon change in the Tbk1 gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6J-derived fertilized eggs with well recognized pronuclei. Correctly targeted embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6J (Stock No. 000664) for 2 generations to develop the colony.
Allele Name | endonuclease-mediated 6, Cathy Lutz |
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Allele Type | Endonuclease-mediated (Humanized sequence) |
Allele Synonym(s) | Tbk1R228H |
Gene Symbol and Name | Tbk1, TANK-binding kinase 1 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 10 |
Molecular Note | 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. |
When maintaining a live colony, these mice can be bred as homozygotes.
When using the Tbk1 R228H KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #027983 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Tbk1<em6(R228H)Lutzy> |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em6Lutzy>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em6Lutzy>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em6Lutzy>/J | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em6Lutzy>/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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