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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

      *Gene is associated with the disease in this species
      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)89Ahmb View 11 models
References Disease References using Mouse Models (31)

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 5.20
The Jackson Laboratory