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Allele : Snca<tm2(SNCA)Ge> synuclein, alpha; targeted mutation 2, Gregor Eichele

Primary Identifier  MGI:7572834 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 a C-terminally truncated human alpha-synuclein lacking 21 amino acids, IRES, a placental alkaline phosphatase (pLAP) reporter gene, and an 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. Protein expression of the wild-type human alpha-synuclein is detected, as is the human mutated alpha-synuclein, indicating read-through transcription. However, expression of the human mutant protein is approximately 4-fold lower than in the derivative allele expressing only the mutant SNCA (Sncatm2.1(SNCA*)Ge). The truncation terminates with aspartic acid at residue 119 (120 CCT to TAA) and favors fibrillary aggregate formation.
  • mutations:
  • Insertion
  • synonyms:
  • halphaSyn<tm2>,
  • halphaSyn<tm2>
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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

3 Publication categories

Trail: Allele