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Allele : Serpina1<em2Chmu> serine (or cysteine) peptidase inhibitor, clade A, member 1 cluster; endonuclease-mediated mutation 2, Christian Mueller

Primary Identifier  MGI:6358589 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Serpina1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intergenic deletion
  • synonyms:
  • 24B,
  • 24B
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1 Feature

Trail: Allele

Genome

0 Expresses

3 Mutation Involves

Trail: Allele

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

3 Publication categories

Trail: Allele