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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, Type I; SMA1
OMIM ID: 253300
Human Phenotype Ontology associations
Synonyms Muscular Atrophy, Infantile; SMA I; SMA, Infantile Acute Form; Spinal Muscular Atrophy; Werdnig-Hoffmann Disease
View all models View ALL (18) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     SMN1*, SMN2 Smn1* View 17 models HomoloGene and HGNC
     VPS54 Vps54* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (51)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory