Primary Identifier | MGI:6501714 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Atxn1 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/cas9 genome editing is used to introduce a p.S751A (serine to alanine, TCG to GCG) mutation and additional synonymous mutations (altering the PAM motif to increase editing efficiency and facilitate genotyping). The p.S751A mutation in mouse is homologous to p.S776A in human. The mutation abolishes phosphorylation of the protein, as confirmed by western blotting. Atxn1 mRNA levels are unchanged, as determined by RT-qPCR. |