Niemann-Pick Disease (Sphingomyelinosis) 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
Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick type A, A/B and B disease, is caused by mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene encoding the enzyme acid sphingomyelinase.
Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2–3 years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood.
● Genetically Engineered ASMD Mouse Models
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T052870 | Npc1-KO | Knockout | Homozygous Npc1-KO mice show low birth rate, reduced body weight and complete premature death before 10 weeks old. Liver function of Npc1-KO homozygous is significantly impaired, and the liver, lung and spleen of the mice are significantly enlarged, with infiltration of macrofoam cells and elevated proliferation of macrophages |
| T014011 | Smpd1-KO | Knockout | Homozygous Smpd1-KO mice display enlarged liver, lung and spleen at 12 weeks old, and foam cell infiltration is also observed in these organs, which mimics the disease phenotype of Niemann-Pick disease type A&B (also known as acid sphingomyelinase deficiency) |