Snca^tm2(SNCA)Ge
Targeted Allele Detail

Summary

• Symbol: Snca^tm2(SNCA)Ge
• Name: synuclein, alpha; targeted mutation 2, Gregor Eichele
• MGI ID: MGI:7572834
• Synonyms: halphaSyn^tm2
• Gene: Snca Location: Chr6:60708559-60806839 bp, - strand Genetic Position: Chr6, 29.15 cM
• Alliance: Snca^tm2(SNCA)Ge page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:314280
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Snca^tm2(SNCA)Ge expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SNCA (6622)

  Snca	(MGI:1277151)

  Expresses wild-type human SNCA as well as a low level of read-through mutant C-terminally truncated human SNCA

• Mutation details: 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 (Snca^{tm2.1(SNCA*)Ge}). The truncation terminates with aspartic acid at residue 119 (120 CCT to TAA) and favors fibrillary aggregate formation. (J:314280)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Snca Mutation: 42 strains or lines available

References

• Original: J:314280 Martinez Hernandez A, et al., Low-Expressing Synucleinopathy Mouse Models Based on Oligomer-Forming Mutations and C-Terminal Truncation of alpha-Synuclein. Front Neurosci. 2021;15:643391
• All: 1 reference(s)