
Hepatolenticular Degeneration Model
Obesity ModelsDiabetes ModelsAndrogenetic Alopecia (AGA) ModelsMASH ModelsChronic Liver Fibrosis ModelsAcute Liver Injury ModelsChronic Kindey Disease (CKD) ModelsCholestasis ModelsAlcohol-related Liver Disease (ALD) ModelsActue Kindey Disease (AKD) ModelsDiabetes Nephropathy (Diabetic Kidney Disease) ModelsOsteoporosis ModelsSarcopenia ModelsGout/Hyperuricemia ModelsFemale Reproduction Models
Hemophilia ModelsProgressive Familial Intrahepatic Cholestasis ModelsAutosomal Dominant Polycystic Kidney Disease (ADPKD)Glycogen Storage Disease type 1a ModelGrowth Failure ModelsFabry Disease ModelsHepatolenticular Degeneration ModelNiemann-Pick Disease (Sphingomyelinosis) ModelsHypophosphatasia ModelGM2 Gangliosidoses ModelPulmonary Alveolar Proteinosis ModelLimb Girdle Muscular Dystrophies ModelMaple Syrup Urine Disease ModelMucopolysaccharidosis ModelsHutchinson-Gilford Progeria Syndrome ModelPhenylketonuria/Hyperphenylalaninemia ModelsUrea Cycle Disorders ModelsTyrosinemia ModelThalassemia Models
Hepatolenticular degeneration (Wilson disease) , is an autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene. This gene encodes a P-type ATPase transmembrane copper transporter, with mutations resulting in impaired biliary copper excretion and subsequent toxic copper accumulation in multiple organs, particularly the liver and central nervous system.
● Genetically Engineered Hepatolenticular degeneration Mouse Model
Strain No.
|
Strain Name | Strain Type | Description |
---|---|---|---|
T013709 | Atp7b-KO | Knockout | Homozygous Atp7b-KO mice show significant decrease in plasma ceruloplasmin activity and impairment of copper ion tolerance from 6 weeks old. Excess copper accumulation in the liver of 22-week-old Atp7b-KO mice is also detected by LC-MS and Timm staining |