Atxn1^em1Horr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atxn1^em1Horr
• Name: ataxin 1; endonuclease-mediated mutation 1, Harry T Orr
• MGI ID: MGI:7565688
• Synonyms: Atxn1^175QK772T
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^em1Horr page

Mutation origin

• Strain of Origin: B6.129S7-Atxn1^tm1Hzo/175Hzo

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Nucleotide repeat expansion, Nucleotide substitutions
• Mutation details: 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 Atxn1^tm1Hzo allele that has a spontaneous trinucleotide expansion from 154Q to 175Q. The p.K772T mutation in mouse is homologous to p.S776A in human. (J:343335)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

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

References

• Original: J:343335 Handler HP, et al., Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. Neuron. 2023 Feb;111(4):493-507.e6
• All: 1 reference(s)