| Type | MGI:General | Description | heterozygotes have a normal lifespan but develop a progressive lipid storage disease in several organs, particularly in liver at ~6 months of age, heterozygous mutant livers display accumulation of lipids throughout the parenchyma the storage material is predominantly neutral lipid similar lipid-laden inclusions are observed in the lung, skin, and bone in addition to lipid storage vacuoles, lung macrophages accumulate lamellar and crystalline-like inclusions histopathological features correlate with an up to 2-fold elevation in the ceramide content of these tissues and an ~50% reduction in acid ceramidase activity at pH=4.5, but not at pH=7.0 |
