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Allele : Atxn3<tm2.1(ATXN3*)Mfig> ataxin 3; targeted mutation 2.1, Maciej Figiel

Primary Identifier  MGI:5708157 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Atxn3
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A genomic region including exons 7-11 was replaced with a human cDNA containing exons 7 - 11. The cDNA was derived from the GM06153 line of human fibroblasts containing 69 CAG repeats which expanded to 91 repeats during the targeting process. An FRT flanked neo cassette was inserted upstream of the cDNA. Flp mediated recombination removed the neo cassette. Mild intergenerational instability of CAG repeats is present in both maternal and paternal transmission. Upon maternal transmission, the CAG tract shows a tendency toward contraction, while upon paternal transmission, the CAG tract shows a tendency toward expansion.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Ki91,
  • Ki91
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele