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Symbol
Name
ID
Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124
Phenotype annotations related to limbs/digits/tail
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
Lower limb muscle weakness
Ulnar deviation of the wrist
Disease(s) Associated with ASAH1
Farber lipogranulomatosis
spinal muscular atrophy with progressive myoclonic epilepsy

Mouse Phenotypes
abnormal knee joint morphology
Availability Mouse Genotype
Asah1tm1.2Geno/Asah1tm1.2Geno

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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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory