Tg(SERPINA1*E366K)1Mlb
Transgene Detail

Summary

• Symbol: Tg(SERPINA1*E366K)1Mlb
• Name: transgene insertion 1, Mark L Brantly
• MGI ID: MGI:7344330
• Synonyms: PI*Z hAAT, Tg(SERPINA1*E342K)1Mlb
• Transgene: Tg(SERPINA1*E366K)1Mlb Location: unknown Genetic Position: ChrUN, Syntenic
• Alliance: Tg(SERPINA1*E366K)1Mlb page

Transgene origin

• Strain of Origin: C57BL/6J

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(SERPINA1*E366K)1Mlb expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SERPINA1 (5265)

  Serpina1a	(MGI:891971)
  Serpina1b	(MGI:891970)
  Serpina1c	(MGI:891969)
  Serpina1d	(MGI:891968)
  Serpina1e	(MGI:891967)

  carries E342K mutation

• Mutation details: The transgenic construct contains the entire mutant human SERPINA1 gene under its endogenous promoters (both hepatocyte and macrophage) including a glutamic acid to lysine substitution at residue 366 (E366K, also designated E342K; G to A) plus 5 kB of the 5' and 3 kb of the 3' flanking genomic DNA sequences. Founder 1 carries 5-6 copies of the transgene. The nomenclature differences are accounted for by the fact that the mature protein following cleavage of the 24 amino acid signal peptide at N terminus is not comparable to the gene sequence. In the whole coding area, 366 is the location of the G to A mutation associated with the Z allele. In the mature protein the sample amino acid is 342. (J:329417)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:329346 Khodayari N, et al., The Mechanism of Mitochondrial Injury in Alpha-1 Antitrypsin Deficiency Mediated Liver Disease. Int J Mol Sci. 2021 Dec 9;22(24)
• All: 4 reference(s)