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The transgene construct contains the entire human alpha1-antitrypsin (AAT or SERPINA1) gene encoding the Z variant allele which has a Glu->Lys substitution at position 342, plus 2.0 and 2.3 kb of 5' and 3' genomic sequences, respectively. (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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
