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Allele : Atxn1<em3Hzo> ataxin 1; endonuclease-mediated mutation 3, Huda Y Zoghbi

Primary Identifier  MGI:7336365 Allele Type  Endonuclease-mediated
Gene  Atxn1 Strain of Origin  B6.129S7-Atxn1<tm1Hzo>/J
Is Recombinase  false Is Wild Type  false
molecularNote  Embryos derived from Atxntm1Hzo carrying an expanded tract of 154 CAG repeats are further modified to add V591A (GTG to GCC) and S602D (AGT to GAT) mutations in exon 7 that disrupt CIC (capicua) protein interactions. Please note that the mutations V591A and S602D stay consistent with the nomenclature for human ATXN1, however in the mouse these are actually V566A and S577D. Further, these numbers correspond to the wildtype Atxn1 allele and not the polyglutamine expanded allele. Synonymous mutations were also incorporated for genotyping purposes. The mutations are created using CRISPR/cas9 methodologies incorporating gRNA GGTGGAGGACCTGAAGACGG.
  • mutations:
  • Nucleotide substitutions,
  • Nucleotide repeat expansion
  • synonyms:
  • Atxn1<154Q[V591A;S602D]/2Q>,
  • Atxn1<154Q[V591A;S602D]/2Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele