Hepatolenticular Degeneration Model
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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
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Strain No.
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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 |