Atxn1^em5Hzo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atxn1^em5Hzo
• Name: ataxin 1; endonuclease-mediated mutation 5, Huda Y Zoghbi
• MGI ID: MGI:8385019
• Synonyms: Atxn1^{154Q_flox_stop}, SCA1^fl
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^em5Hzo page

Mutation origin

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

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready)
• Mutation: Insertion
• Mutation details:

  Embryos derived from Atxn1^tm1Hzo carrying an expanded tract of 154 CAG repeats were further modified to insert a floxed stop cassette upstream of the first coding exon (exon 7) via CRISPR/Cas9 mediated recombination. (J:387937)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(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: 53 strains or lines available

References

• Original: J:387937 Orengo JP, et al., Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 Apr 22;7(8):e154442
• All: 2 reference(s)