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Phenotypes Associated with This Genotype
Genotype
MGI:2655551
Allelic
Composition
Asah1tm1Esc/Asah1+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asah1tm1Esc mutation (0 available); any Asah1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• heterozygotes have a normal lifespan but develop a progressive lipid storage disease in several organs, particularly in liver (J:74647)
• at ~6 months of age, heterozygous mutant livers display accumulation of lipids throughout the parenchyma (J:74647)
• the storage material is predominantly neutral lipid (J:74647)
• similar lipid-laden inclusions are observed in the lung, skin, and bone (J:74647)
• in addition to lipid storage vacuoles, lung macrophages accumulate lamellar and crystalline-like inclusions (J:74647)
• 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 (J:74647)
• heterozygotes have a normal lifespan but develop a progressive lipid storage disease in several organs, particularly in liver (J:74647)
• at ~6 months of age, heterozygous mutant livers display accumulation of lipids throughout the parenchyma (J:74647)
• the storage material is predominantly neutral lipid (J:74647)
• similar lipid-laden inclusions are observed in the lung, skin, and bone (J:74647)
• in addition to lipid storage vacuoles, lung macrophages accumulate lamellar and crystalline-like inclusions (J:74647)
• 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 (J:74647)

liver/biliary system
• lipid-laden inclusions are detected in most liver cell types, but are most evident in Kupffer cells (J:74647)
• lipid-laden inclusions are detected in most liver cell types, but are most evident in Kupffer cells (J:74647)
• at ~6 months of age, heterozygous mutant livers appear pale and fibrous (J:74647)
• at ~6 months of age, heterozygous mutant livers appear pale and fibrous (J:74647)

Mouse Models of Human Disease
OMIM ID Ref(s)
Farber Lipogranulomatosis; FRBRL 228000 J:74647


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory