| Primary Identifier | MGI:6405404 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Tardbp |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated an A to G nucleotide change at position 1009 resulting in a methionine to valine substitution at amino acid 337 in exon 6. Analysis of mRNA levels and protein levels in the brain shows no difference in expression level from wild-type. Splicing of mRNAs regulated by TARDBP is deregulated in spinal cords, indicating a gain of splicing function. The M337V mutation is seen in patients with amyotrophic lateral sclerosis. |
