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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; Werdnig-Hoffmann Disease
View all models View ALL (17) 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 16 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 10 models
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory