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Symbol
Name
ID

Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124

Phenotype annotations related to immune system

Darker colors indicate more annotations

Human Phenotypes	Lipogranulomatosis	Splenomegaly	Hepatosplenomegaly	Recurrent aspiration pneumonia	Recurrent respiratory infections
Disease(s) Associated with ASAH1	Lipogranulomatosis	Splenomegaly	Hepatosplenomegaly	Recurrent aspiration pneumonia	Recurrent respiratory infections
Farber lipogranulomatosis
spinal muscular atrophy with progressive myoclonic epilepsy

Mouse Phenotypes

increased macrophage derived foam cell number

abnormal thymus morphology

enlarged thymus

enlarged spleen

increased spleen weight

decreased double-positive T cell number

increased eosinophil cell number

increased neutrophil cell number

increased granulocyte number

decreased B cell number

decreased CD4-positive, alpha-beta T cell number

decreased CD8-positive, alpha-beta T cell number

decreased T cell number

decreased lymphocyte cell number

increased macrophage cell number

increased monocyte cell number

decreased leukocyte cell number

increased leukocyte cell number

decreased splenocyte number

pale spleen

abnormal circulating cytokine level

abnormal circulating chemokine level

increased circulating CXCL10 level

increased circulating interleukin-12b level

abnormal lymph node morphology

enlarged lymph nodes

abnormal chemokine secretion

lung inflammation

Availability

Mouse Genotype

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

Asah1^tm1Medin/Asah1^tm1Medin

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23