Version: 8.0.0Date: Tue Jan 28 2025
Disease Alleles: Tg(SERPINA1*E342K)#Slcw (Mmu)
Source: DOID:13372
Definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.