Primary Identifier | MGI:7336372 | Allele Type | Endonuclease-mediated |
Gene | Atxn1 | Strain of Origin | B6.129S7-Atxn1<tm1Hzo>/J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Embryos derived from Atxntm1Hzo are further modified to add V591A (GTG to GCC) and S602D (AGT to GAT) mutations in exon 7 that disrupt CIC (capicua) protein interactions. Please note that the mutations V591A and S602D stay consistent with the nomenclature for human ATXN1, however in the mouse these are actually V566A and S577D. Further, these numbers correspond to the wildtype Atxn1 allele and not the polyglutamine expanded allele. Synonymous mutations were also incorporated for genotyping purposes. The mutations are created using CRISPR/cas9 methodologies incorporating gRNA GGTGGAGGACCTGAAGACGG. |