This CRISPR/Cas9 generated Tuba4a W407X knock-in mutant of the Tuba4a gene carries the W407X point mutation. These mice may be useful in studies related to the cytoskeleton and amyotrophic lateral sclerosis (ALS).
Cathleen Lutz, The Jackson Laboratory
This CRISPR/Cas9 generated mutant of the Tuba4a (tubulin, alpha 4A), carries a W407X point mutation. The human TUBA4A W407X mutation (C-to-T transition in exon 4) is associated with amyotrophic lateral sclerosis 22 without frontotemoral dementia. The Tuba4a gene encodes one of the major constituents of microtubules. Homozygotes 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 W407X 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 No. 000664) for 2 generations to develop the colony.
|Allele Name||endonuclease-mediated mutation 10, 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 C-to-T transition in exon 4 resulting in a W407X substitution. The human TUBA4A W407X mutation is associated with amyotrophic lateral sclerosis 22 without frontotemoral dementia.|
When maintaining a live colony, these mice can be bred as homozygotes.
When using the Tuba4a W407X KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #028087 in your Materials and Methods section.