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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, X-Linked 2; SMAX2
OMIM ID: 301830
Synonyms AMC, Distal, X-Linked; Arthrogryposis Multiplex Congenita, Distal, X-Linked; Arthrogryposis, X-Linked, Type I; AMCX1; Spinal Muscular Atrophy; Spinal Muscular Atrophy, Infantile X-Linked; XLSMA; Spinal Muscular Atrophy, X-Linked Lethal Infantile
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
     Uba1 UBA1*   1:1 Homology

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
12/09/2014
MGI 5.20
The Jackson Laboratory