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Symbol
Name
ID
Smn1
survival motor neuron 1
MGI:109257
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Calf muscle hypertrophy
Proximal lower limb amyotrophy
Quadriceps muscle atrophy
Areflexia of lower limbs
Absent patellar reflexes
Absent Achilles reflex
Shoulder girdle muscle weakness
Lower limb muscle weakness
Proximal muscle weakness in lower limbs
Pelvic girdle amyotrophy
Shoulder girdle muscle atrophy
Pelvic girdle muscle weakness
Limb fasciculations
Disease(s) Associated with SMN1
adult spinal muscular atrophy
juvenile spinal muscular atrophy
Werdnig-Hoffmann disease
Disease(s) Associated with SMN2
juvenile spinal muscular atrophy


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory