Mouse Genome Informatics
ht
    Asah1tm1Esc/Asah1+
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• 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

liver/biliary system
• lipid-laden inclusions are detected in most liver cell types, but are most evident in Kupffer cells
• at ~6 months of age, heterozygous mutant livers appear pale and fibrous

Mouse Models of Human Disease
OMIM IDRef(s)
Farber Lipogranulomatosis 228000 J:74647