Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Serpina1em2Chmu
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

Strain of Origin:

C57BL/6J

Allele Type:    Endonuclease-mediated (Null/knockout) Mutation:    Intergenic deletion   Serpina1em2Chmu 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)