This CRISPR/Cas9 generated Tuba4a R320C knock-in mutant of the Tuba4a gene carries a R320C point mutation. These mice may be useful in studies related to the cytoskeleton and amyotrophic lateral sclerosis.
Cathleen Lutz, The Jackson Laboratory
CRISPR/cas9 endonuclease mediated genome editing of the Tuba4a, tubulin, alpha 4A, gene was used to introduce a R320C point mutation. The human TUBA4A R320C mutation (arg320-to-cys) is associated with amyotrophic lateral sclerosis 22 without frontotemporal dementia. The Tuba4a gene encodes one of the major constituents of microtubules. Homozygous mice are viable and fertile. As the mice are characterized, we will modify the strain description and add phenotype data.
Plasmids encoding a signal guide RNA designed to introduce a R320C point mutation into the Tuba4a gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6J-derived fertilized eggs with well recognized pronuclei. Embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6J (Stock# 000664) for 2 generations to develop the colony.
|Allele Name||endonuclease-mediated mutation 4, Cathy Lutz|
|Allele Type||Endonuclease-mediated (Humanized sequence)|
|Gene Symbol and Name||Tuba4a, tubulin, alpha 4A|
|Strain of Origin||C57BL/6J|
|Molecular Note||CRISPR/Cas9 genome editing is used to introduce a R320C point mutation. The human TUBA4A R320C mutation (arg320-to-cys) is associated with amyotrophic lateral sclerosis 22 without frontotemporal dementia.|
When maintaining a live colony, these mice can be bred as homozygotes.
When using the Tuba4a R320C KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #028092 in your Materials and Methods section.