C57BL/6J-Tuba4a^em14Lutzy/J

Stock number: 028092
Product name: Tuba4a R320C KI
Research areas: Cell Biology Research, Neurobiology Research, Research Tools

Description

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.

Detailed description

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.

Development

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

Symbol: Tuba4a^em14Lutzy
Name: endonuclease-mediated mutation 4, Cathy Lutz
MGI accession ID: MGI:6295424
Generation method: Endonuclease-mediated
Attributes: Humanized sequence
Marker symbol: Tuba4a
Marker name: tubulin, alpha 4A
Chromosome: 1
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.