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Allele : Htt<tm1Mfc> huntingtin; targeted mutation 1, Marie-Francoise Chesselet

Primary Identifier  MGI:2675580 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Htt
Transmission  Germline Strain of Origin  129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence containing 140 CAG repeats. A floxed neo cassette was retained 1.3 kb upstream of exon 1. Western blot analysis of homozygous mutant cerebellum and forebrain tissues identified protein corresponding with the mouse/human hybrid protein. Similar levels of mutant and endogenous protein were observed. The repeat number is not stable and may expand or contract.
  • mutations:
  • Insertion
  • synonyms:
  • Q175 KI,
  • Q140,
  • CAG140 KI,
  • Hdh<Q140>,
  • 140-CAG KI,
  • zQ175,
  • zQ175,
  • CAG140,
  • 140-CAG KI,
  • Hdh<Q140>,
  • CAG140 KI,
  • Q140,
  • Q175 KI,
  • CAG140
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

0 Driven By

160 Publication categories