Phenotypes associated with this allele

• Allele Symbol: Asah1^tm1Esc
• Allele Name: targeted mutation 1, Edward H Schuchman
• Allele ID: MGI:2180367
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asah1^tm1Esc/Asah1^tm1Esc	involves: 129S1/Sv * C57BL/6	MGI:2655550
ht2	Asah1^tm1Esc/Asah1^+	involves: 129S1/Sv * C57BL/6	MGI:2655551

Genotype
MGI:2655550

hm1

• Allelic Composition: Asah1^tm1Esc/Asah1^tm1Esc
• Genetic Background: involves: 129S1/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:74647 )

• homozygous null embryos die prior to E8.5

Genotype
MGI:2655551

ht2

• Allelic Composition: Asah1^tm1Esc/Asah1⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

homeostasis/metabolism

abnormal lipid homeostasis ( J:74647 )

• 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

abnormal liver morphology ( J:74647 )

• lipid-laden inclusions are detected in most liver cell types, but are most evident in Kupffer cells

pale liver ( J:74647 )

• 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	J:74647