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The transgenic construct contains the entire mutant human SERPINA1 (serine (or cysteine) peptidase inhibitor, clade A, member 1 cluster) gene under its endogenous promoter plus 2 kB of the 5' and 3' flanking genomic DNA sequences. Mutant SERPINA1 contains the PiZ variant in which glutamic acid is replaced by lysine at residue 342 (CAG to AAG, E342K). Founder Z11.03 carrying 16 copies of the transgene. (J:149132, J:149133)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
