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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, Type I; SMA1
OMIM ID: 253300
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...
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Smn1* SMN1*, SMN2 View 17 models 1:2 Homology
     Vps54* VPS54 View 1 model 1:1 Homology
Transgenes and
other genome features
Transgenes and other genome features developed in mice to model this disease.

     Transgenes and Other Genome Features Mouse Models
  Tg(SMN2)2Hung View 1 model
  Tg(SMN2)89Ahmb View 11 models
References Disease References using Mouse Models (32)

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
05/12/2015
MGI 5.21
The Jackson Laboratory