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Allele : Atxn1<em1Hzo> ataxin 1; endonuclease-mediated mutation 1, Huda Y Zoghbi
Primary Identifier  MGI:6501714 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Atxn1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing is 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). 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 mRNA levels are unchanged, as determined by RT-qPCR.
  • mutations:
  • Single point mutation
  • synonyms:
  • Atxn1<2Q[S766A]>,
  • Atxn1<2Q[S766A]>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele

0 Driven By

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Trail: Allele




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