C57BL/6J-Tuba4a^em10Lutzy/J

Stock number: 028087
Product name: Tuba4a W407X KI
Research areas: Cell Biology Research, Neurobiology Research, Research Tools

Description

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).

Detailed description

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.

Development

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

Symbol: Tuba4a^em10Lutzy
Name: endonuclease-mediated mutation 10, Cathy Lutz
MGI accession ID: MGI:6295421
Generation method: Endonuclease-mediated
Attributes: Humanized sequence
Synonyms: Tuba4a^W407X
Marker symbol: Tuba4a
Marker name: tubulin, alpha 4A
Marker synonyms: ALS22; H2-ALPHA; M[a]4; TUBA1; Tuba4
Chromosome: 1
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.