Serpina1^em2Chmu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Serpina1^em2Chmu
• Name: serine (or cysteine) peptidase inhibitor, clade A, member 1 cluster; endonuclease-mediated mutation 2, Christian Mueller
• MGI ID: MGI:6358589
• Synonyms: 24B
• Gene: Serpina1 Location: unknown Genetic Position: Chr12, cytoband E-F

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intergenic deletion
• Serpina1^em2Chmu involves 3 genes/genome features (Serpina1d, Serpina1a, Serpina1c) View all
• Mutation details: CRISPR/Cas9 technology is used to disrupt five highly homologous gene paralogs through the targeting of exon 2 using a combination of four gRNAs, deleting 55 kb (103767258-103822011) and 90 kb (103858249-103947696), resulting in the excision of Serpina1d and Serpina1a and 1c. In addition, complementary targeted locus amplification sequencing shows a 73-bp deletion in exon 2 of Serpina1b, causing a frameshift and a truncated protein that is predicted to be 105 amino acids instead of 413. Transcriptome analysis indicates unchanged levels of transcripts. Western blot confirmed absence of the alpha1-antitrypsin protein in serum. (J:259615)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Serpina1 Mutation: 1 strain or line available

References

• Original: J:259615 Borel F, et al., Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema. Proc Natl Acad Sci U S A. 2018 Mar 13;115(11):2788-2793
• All: 1 reference(s)