This CRISPR/Cas9 generated Tbk1 G217R knock-in mutant of the Tbk1 gene carries a G217R knock-in mutation (a GGG->AGG codon change). 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 |
Oligo-based CRISPR/cas9 endonuclease-mediated genome editing of the Tbk1 (TANK-binding kinase 1) gene was used to introduce a GGG->AGG codon change (G217R point mutation). The targeted Tbk1 gene encodes a encodes a serine/threonine kinase that is involved in inflammatory response regulation and autophagy. Mutations in this gene are associated with frontotemporal dementia and/or amyotrophic lateral sclerosis 4. Heterozygous mice are viable and fertile, homozygous mice are not viable. As the mice are characterized, we will modify the strain description and add phenotype data.
A mutagenic oligo-based approach was used to generate this strain. Plasmids encoding a signal guide RNA designed to introduce a GGG->AGG codon change (G217R point mutation) in the Tbk1 (TANK-binding kinase 1) 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 DNA sequencing of Tbk1 exon 6 and specific PCR amplified DNA. Mice were further bred to C57BL/6J (Stock# 000664) for 2 generations to develop the colony.
Allele Name | endonuclease-mediated mutation 3, Cathy Lutz |
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Allele Type | Endonuclease-mediated (Humanized sequence) |
Allele Synonym(s) | Tbk1G217R |
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 GGG to AGG codon change resulting in a G217R amino acid substitution. In humans, the G217R substitution is associated with amyotrophic lateral sclerosis. |
When maintaining a live colony, these mice can be bred as heterozygous mice may be bred to wildtype mice from the colony or to C57BL/6J inbred mice (Stock No. 000664). Homozygous mice are not viable.
When using the Tbk1 G217R KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #027080 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Tbk1<em#3(G217R)Lutzy> |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em3Lutzy>/1J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em3Lutzy>/1J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em3Lutzy>/1J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Tbk1<em3Lutzy>/1J Frozen Embryos | $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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