Serpina1em2Chmu
Endonuclease-mediated Allele Detail
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| 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
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| Allele Type: |
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Endonuclease-mediated (Null/knockout) |
| Mutation: |
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Intergenic deletion
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Serpina1em2Chmu involves 3 genes/genome features (Serpina1d, Serpina1a, Serpina1c)
View all
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Serpina1 Mutation: |
1 strain or line available
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| 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) |
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Analysis Tools
