Primary Identifier | MGI:7565688 | Allele Type | Endonuclease-mediated |
Gene | Atxn1 | Strain of Origin | B6.129S7-Atxn1<tm1Hzo>/175Hzo |
Is Recombinase | false | Is Wild Type | false |
molecularNote | CRISPR/cas9 genome editing was used to introduce a p.K772T (lysine to threonine, AG to CC) mutation and additional synonymous mutations (altering the PAM motif to increase editing efficiency and facilitate genotyping) in zygotes containing the Atxn1tm1Hzo allele that has a spontaneous trinucleotide expansion from 154Q to 175Q. The p.K772T mutation in mouse is homologous to p.S776A in human. |