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Allele : Snca<tm1(SNCA)Ge> synuclein, alpha; targeted mutation 1, Gregor Eichele

Primary Identifier  MGI:7572832 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence, Inserted expressed sequence Gene  Snca
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector consisting of loxP-flanked human alpha-synuclein, followed by human alpha-synuclein with three alanine to proline substitutions at residues 30, 56, and 76 (A30P, A56P, A76P), IRES, a placental alkaline phosphatase (pLAP) reporter gene, and FRT-flanked neomycin gene was targeted to exon 3, thereby disrupting the mouse gene and placing the wild-type human gene under the control of the endogenous mouse regulatory region. The neomycin selection cassette was removed via flp-mediated recombination. RT-PCR detected a 512 bp transcript corresponding to the wild-type human alpha-synuclein, as well as a 566 bp transcript indicating that the mutant human alpha-synuclein transcript is also expressed due to read-through transcription. However, expression of the human mutant protein is approximately 10-fold lower than in the derivative allele expressing only the mutant SNCA (Sncatm1.1(SNCA*)Ge). The triple alanine to proline substitutions favors oligomer formation.
  • mutations:
  • Insertion
  • synonyms:
  • halphaSyn<tm1>,
  • halphaSyn<tm1>
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories