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Symbol
Name
ID

Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes	Osteolytic defects of the phalanges of the hand	Hyperextensibility of the finger joints	Osteolysis involving bones of the feet	Limitation of knee mobility	Ulnar deviation of the wrist	Joint swelling	Flexion contracture	Scoliosis	Arthritis
Disease(s) Associated with ASAH1	Osteolytic defects of the phalanges of the hand	Hyperextensibility of the finger joints	Osteolysis involving bones of the feet	Limitation of knee mobility	Ulnar deviation of the wrist	Joint swelling	Flexion contracture	Scoliosis	Arthritis
Farber lipogranulomatosis
spinal muscular atrophy with progressive myoclonic epilepsy

Mouse Phenotypes		abnormal knee joint morphology	decreased long bone epiphyseal plate size	scoliosis	abnormal endochondral bone ossification
Availability	Mouse Genotype	abnormal knee joint morphology	decreased long bone epiphyseal plate size	scoliosis	abnormal endochondral bone ossification
	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 04/16/2024 MGI 6.23