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Phenotypes Associated with This Genotype
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asah1tm1Esc mutation (0 available); any Asah1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 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
DO ID OMIM ID(s) Ref(s)
Farber lipogranulomatosis DOID:0050464 OMIM:228000

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory