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Allele : Atxn1<em1Horr> ataxin 1; endonuclease-mediated mutation 1, Harry T Orr

Primary Identifier  MGI:7565688 Allele Type  Endonuclease-mediated
Gene  Atxn1 Strain of Origin  B6.129S7-Atxn1<tm1Hzo>/175Hzo
Is Recombinase  false Is Wild Type  false
molecularNote  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 Atxn1tm1Hzo allele that has a spontaneous trinucleotide expansion from 154Q to 175Q. The p.K772T mutation in mouse is homologous to p.S776A in human.
  • mutations:
  • Nucleotide substitutions,
  • Nucleotide repeat expansion
  • synonyms:
  • Atxn1<175QK772T>,
  • Atxn1<175QK772T>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

2 Publication categories