Asah1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124

101 phenotypes from 5 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Asah1^tm1.1Jhkh/Asah1^tm1.1Jhkh Not Specified	abnormal ceramide level	J:199833
	abnormal depression-related behavior	J:199833
	abnormal neuron differentiation	J:199833
	abnormal physiological response to xenobiotic	J:199833
Asah1^tm1.1Medin/Asah1^tm1.1Medin B6.129S6(CBA)-Asah1^tm1.1Medin	abnormal gait	J:360938
	abnormal kidney morphology	J:360938
	abnormal perivascular macrophage morphology	J:360938
	abnormal sphingolipid level	J:360938
	abnormal spinal cord white matter morphology	J:360938
	abnormal spleen white pulp morphology	J:360938
	abnormal urinary bladder detrusor smooth muscle morphology	J:360938
	abnormal urinary bladder urothelium morphology	J:360938
	astrocytosis	J:360938
	demyelination	J:360938
	distended urinary bladder	J:360938
	hindlimb paralysis	J:360938
	normal homeostasis/metabolism phenotype	J:360938
	hypoactivity	J:360938
	impaired limb coordination	J:360938
	increased ceramide level	J:360938
	increased chemokine level	J:360938
	increased mechanical nociceptive threshold	J:360938
	increased sphingosine level	J:360938
	increased susceptibility to pharmacologically induced seizures	J:360938
	kyphosis	J:360938
	liver degeneration	J:360938
	normal nervous system phenotype	J:360938
	premature death	J:360938
	progressive muscle weakness	J:360938
	normal reproductive system phenotype	J:360938
	spinal cord degeneration	J:360938
	spleen atrophy	J:360938
	tremors	J:360938
	urinary incontinence	J:360938
	weight loss	J:360938
Asah1^tm1.2Geno/Asah1^tm1.2Geno involves: C57BL/6	abnormal circulating cytokine level	J:285931
	abnormal gait	J:285931
	abnormal knee joint morphology	J:285931
	abnormal lymph node morphology	J:285931
	abnormal sphingomyelin level	J:285931
	abnormal thymus morphology	J:285931
	astrocytosis	J:285931
	centrally nucleated skeletal muscle fibers	J:285931
	decreased B cell number	J:285931
	decreased CD4-positive, alpha-beta T cell number	J:285931
	decreased CD8-positive, alpha-beta T cell number	J:285931
	decreased double-positive T cell number	J:285931
	decreased leukocyte cell number	J:285931
	decreased lymphocyte cell number	J:285931
	decreased mean corpuscular hemoglobin	J:285931
	decreased mean corpuscular volume	J:285931
	decreased splenocyte number	J:285931
	decreased T cell number	J:285931
	dystrophic muscle	J:285931
	enlarged spleen	J:285931
	increased blood urea nitrogen level	J:285931
	increased ceramide level	J:285931
	increased circulating alanine transaminase level	J:285931
	increased circulating aspartate transaminase level	J:285931
	increased circulating creatine kinase level	J:285931
	increased circulating CXCL10 level	J:285931
	increased circulating lactate dehydrogenase level	J:285931
	increased erythrocyte cell number	J:285931
	increased granulocyte number	J:285931
	increased hematopoietic stem cell number	J:285931
	increased macrophage cell number	J:285931
	increased macrophage derived foam cell number	J:285931
	increased monocyte cell number	J:285931
	increased sphingosine level	J:285931
	liver fibrosis	J:285931
	lung inflammation	J:285931
	premature death	J:285931
	scoliosis	J:285931
	skeletal muscle fiber atrophy	J:285931
	weight loss	J:285931
Asah1^tm1Esc/Asah1⁺ involves: 129S1/Sv * C57BL/6	abnormal lipid homeostasis	J:74647
	abnormal liver morphology	J:74647
	pale liver	J:74647
Asah1^tm1Esc/Asah1^tm1Esc involves: 129S1/Sv * C57BL/6	embryonic lethality, complete penetrance	J:74647
Asah1^tm1Medin/Asah1^tm1Medin involves: 129S6/SvEvTac * CD-1	abnormal ceramide level	J:232306
	abnormal chemokine secretion	J:232306
	abnormal circulating chemokine level	J:232306
	abnormal endochondral bone ossification	J:232306
	abnormal enzyme/coenzyme activity	J:232306
	abnormal lysosome morphology	J:232306
	abnormal pulmonary alveolus morphology	J:232306
	cachexia	J:232306
	decreased gonadal fat pad weight	J:232306
	decreased long bone epiphyseal plate size	J:232306
	decreased tertiary ovarian follicle number	J:232306
	dilated brain ventricle	J:232306
	enlarged lymph nodes	J:232306
	enlarged spleen	J:232306
	enlarged thymus	J:232306
	hepatic necrosis	J:232306
	hydrocephaly	J:232306
	increased circulating interleukin-12b level	J:232306
	increased eosinophil cell number	J:232306
	increased erythrocyte cell number	J:232306
	increased hemoglobin content	J:232306
	increased leukocyte cell number	J:232306
	increased macrophage derived foam cell number	J:232306
	increased monocyte cell number	J:232306
	increased neutrophil cell number	J:232306
	increased spleen weight	J:232306
	lethargy	J:232306
	limb grasping	J:232306
	pale spleen	J:232306
	penis prolapse	J:232306
	postnatal growth retardation	J:232306
	premature death	J:232306
	pulmonary alveolar edema	J:232306
	small ovary	J:232306
	weight loss	J:232306

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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