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Allele : Atxn7<tm2Hzo> ataxin 7; targeted mutation 2, Huda Y Zoghbi

Primary Identifier  MGI:6294768 Allele Type  Targeted
Attribute String  Hypomorph Gene  Atxn7
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  Exons 3 and 4 as well as flanking intron containing GC-rich region upstream of exon 3 (2.4 kb total) are replaced with a PGK-neomycin cassette via homologous recombination. This removed the first 117 amino acids of the encoded protein. A truncated protein is expressed at approximately 50% normal levels.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Sca7<delta117>,
  • Sca7<delta117>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele