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Symbol
Name
ID

Smn1
survival motor neuron 1
MGI:109257

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Calf muscle hypertrophy

Proximal lower limb amyotrophy

Quadriceps muscle atrophy

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

Generalized hypotonia

EMG abnormality

EMG: neuropathic changes

EMG: chronic denervation signs

Muscle spasm

Muscle weakness

Poor head control

Proximal muscle weakness

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Angulated muscle fibers

Centrally nucleated skeletal muscle fibers

Muscle fiber necrosis

Rimmed vacuoles

Skeletal muscle atrophy

Distal amyotrophy

Proximal amyotrophy

Spinal muscular atrophy

Disease(s) Associated with SMN1

adult spinal muscular atrophy

intermediate spinal muscular atrophy

juvenile spinal muscular atrophy

Werdnig-Hoffmann disease

Disease(s) Associated with SMN2

juvenile spinal muscular atrophy

Mouse Phenotypes		skeletal muscle necrosis	abnormal skeletal muscle fiber morphology	increased skeletal muscle fiber size	increased variability of skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	abnormal muscle physiology	hypotonia
Availability	Mouse Genotype	skeletal muscle necrosis	abnormal skeletal muscle fiber morphology	increased skeletal muscle fiber size	increased variability of skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	abnormal muscle physiology	hypotonia
	Smn1^tm1.1Dscd/Smn1^tm1.1Dscd
	Smn1^tm1Jme/Smn1^tm1.1Jme Tg(Eno2-cre)39Jme/0 (conditional)
	Smn1^tm1Jme/Smn1^tm1.1Jme Tg(ACTA1-cre)79Jme/0 (conditional)

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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