Atxn1^em4Hzo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atxn1^em4Hzo
• Name: ataxin 1; endonuclease-mediated mutation 4, Huda Y Zoghbi
• MGI ID: MGI:7336372
• Synonyms: Atxn1^{2Q[V591A;S602D]/2Q}
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^em4Hzo page

Mutation origin

• Strain of Origin: B6.129S7-Atxn1^tm1Hzo/J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Nucleotide repeat expansion, Nucleotide substitutions
• Mutation details: Embryos derived from Atxn^tm1Hzo 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. (J:332730)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Atxn1 Mutation: 50 strains or lines available

References

• Original: J:332730 Coffin SL, et al., Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2022 Dec
• All: 1 reference(s)