Atxn1^em2Hzo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atxn1^em2Hzo
• Name: ataxin 1; endonuclease-mediated mutation 2, Huda Y Zoghbi
• MGI ID: MGI:6501717
• Synonyms: Atxn1^154Q[S776A]
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^em2Hzo page

Mutation origin

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

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing was 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) in zygotes containing the Atxn1^tm1Hzo allele. 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 protein levels are reduced in all tested brain regions. (J:305291)

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: 48 strains or lines available

References

• Original: J:305291 Nitschke L, et al., Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 Feb 8;6(3)
• All: 1 reference(s)