Fabry Disease Models
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
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient or absent α-galactosidase A (α-GAL) activity, leading to impaired glycosphingolipid metabolism. With an estimated prevalence of 1:40,000 to 1:117,000 in the general population, the pathogenesis of this disease involves the progressive accumulation of globotriaosylceramide (GL-3) and its deacylated form, lyso-GL-3 (globotriaosylsphingosine), due to the enzymatic deficiency. Key target organs include the cardiovascular system, renal parenchyma, and cerebrovascular network.
● Genetically Engineered FD Mouse Models
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T012717 | Gla-KO | Knockout | GLA enzyme activity is significantly reduced in the plasma, brain, kidney, liver and heart of Gla-KO male hemizygous mice. Increased deposition of Gb3 and Lyso-Gb3 is also detected in these tissues, indicating Fabry disease like phenotypes |
| T057359 | NCG-Gla-KO | Knockout | GLA enzyme activity is significantly reduced in the plasma, brain, kidney, liver and heart of NCG-Gla-KO male hemizygous mice. Increased deposition of Gb3 and Lyso-Gb3 is also detected in these tissues. Immunodeficiency of this model allows the evaluation of cell-based therapies against Fabry disease |