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Symbol
Name
ID

Smn1
survival motor neuron 1
MGI:109257

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Tongue fasciculations	Areflexia of lower limbs	Absent patellar reflexes	Absent Achilles reflex	Limb fasciculations	Degeneration of anterior horn cells	Hand tremor	Areflexia	Hyporeflexia	Loss of ambulation	Waddling gait
Disease(s) Associated with SMN1	Tongue fasciculations	Areflexia of lower limbs	Absent patellar reflexes	Absent Achilles reflex	Limb fasciculations	Degeneration of anterior horn cells	Hand tremor	Areflexia	Hyporeflexia	Loss of ambulation	Waddling gait
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		nervous system phenotype	abnormal motor neuron innervation pattern	abnormal motor neuron morphology	decreased motor neuron number	motor neuron degeneration	abnormal facial nerve morphology	abnormal phrenic nerve morphology	axon degeneration
Availability	Mouse Genotype	nervous system phenotype	abnormal motor neuron innervation pattern	abnormal motor neuron morphology	decreased motor neuron number	motor neuron degeneration	abnormal facial nerve morphology	abnormal phrenic nerve morphology	axon degeneration
	Smn1^tm1Msd/Smn1^tm1.1Dscd	*
	Smn1^tm1Msd/Smn1^tm1Rako
	Smn1^tm1Jme/Smn1^tm1Jme Tg(Eno2-cre)39Jme/0 (conditional)
	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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 05/14/2024 MGI 6.23