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Symbol Name ID |
Asah1
N-acylsphingosine amidohydrolase 1 MGI:1277124 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Lower limb muscle weakness |
Functional motor deficit |
Difficulty walking |
Frequent falls |
Proximal muscle weakness |
Gowers sign |
Respiratory insufficiency due to muscle weakness |
Skeletal muscle atrophy |
Progressive distal muscular atrophy |
Spinal muscular atrophy |
| Disease(s) Associated with ASAH1 | |||||||||||
| spinal muscular atrophy with progressive myoclonic epilepsy |
| Mouse Phenotypes | skeletal muscle fiber atrophy |
centrally nucleated skeletal muscle fibers |
dystrophic muscle |
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| Availability | Mouse Genotype | |||
| Asah1tm1.2Geno/Asah1tm1.2Geno | ||||
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 05/14/2024 MGI 6.23 |
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