CRISPR/Cas9 technology is used to disrupt five highly homologous gene paralogs through the targeting of exon 2 using a combination of four gRNAs. The population analyzed for phenotype contained individuals with alleles from the 3 lines (7A, 24B, 31C) and includes Serpina1em1Chmu, Serpina1em2Chmu, and Serpina1em2Chmu. The pound symbol (#) is used when no line is specified or lines are pooled. Western blot and immunohistochemistry confirmed absence of the alpha1-antitrypsin protein in serum and liver tissue, respectively. (J:259615)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Intergenic deletion
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--
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2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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