Symbol
Name
ID

Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Lipogranulomatosis	Elevated circulating creatine kinase concentration	Abnormal circulating enzyme concentration or activity	Decreased acid ceramidase activity	Joint swelling	Recurrent fever
Disease(s) Associated with ASAH1	Lipogranulomatosis	Elevated circulating creatine kinase concentration	Abnormal circulating enzyme concentration or activity	Decreased acid ceramidase activity	Joint swelling	Recurrent fever
Farber lipogranulomatosis
spinal muscular atrophy with progressive myoclonic epilepsy

Mouse Phenotypes

increased blood urea nitrogen level

abnormal circulating cytokine level

abnormal circulating chemokine level

increased circulating CXCL10 level

increased circulating interleukin-12b level

increased circulating alanine transaminase level

increased circulating aspartate transaminase level

increased circulating creatine kinase level

increased circulating lactate dehydrogenase level

pulmonary alveolar edema

abnormal lipid homeostasis

abnormal sphingomyelin level

abnormal ceramide level

increased ceramide level

increased sphingosine level

abnormal enzyme/coenzyme activity

abnormal physiological response to xenobiotic

Availability

Mouse Genotype

Asah1^tm1.1Jhkh/Asah1^tm1.1Jhkh

Asah1^tm1.2Geno/Asah1^tm1.2Geno

Asah1^tm1Medin/Asah1^tm1Medin

Asah1^tm1Esc/Asah1⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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