Niemann-Pick Disease (Sphingomyelinosis) Models

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Wild Mouse 750
Wild Mouse 750
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huPBMC-NCGhuHSC-NCG-XhuHSC-NCG-hIL15huHSC-NCG
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Wild Mouse 765
Wild Mouse 765

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

Strain No.
 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)