Symbol
Name
ID

Syne1
spectrin repeat containing, nuclear envelope 1
MGI:1927152

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Weakness of facial musculature

Flexion contracture of finger

Lower limb muscle weakness

Limb-girdle muscular dystrophy

Flexion contracture

Arthrogryposis multiplex congenita

Spasticity

Lower limb spasticity

Hypotonia

Generalized hypotonia

Neonatal hypotonia

EMG: neuropathic changes

Muscle weakness

Neck muscle weakness

Proximal muscle weakness

Gowers sign

Myotonia

Increased variability in muscle fiber diameter

Central core regions in muscle fibers

Centrally nucleated skeletal muscle fibers

Increased endomysial connective tissue

Skeletal muscle atrophy

Proximal amyotrophy

Muscular dystrophy

Myopathy

Disease(s) Associated with SYNE1

arthrogryposis multiplex congenita-3

autosomal dominant Emery-Dreifuss muscular dystrophy 4

autosomal recessive spinocerebellar ataxia 8

muscular dystrophy

Mouse Phenotypes		abnormal muscle fiber morphology	abnormal skeletal muscle fiber morphology	centrally nucleated skeletal muscle fibers	dystrophic muscle	abnormal muscle physiology
Availability	Mouse Genotype	abnormal muscle fiber morphology	abnormal skeletal muscle fiber morphology	centrally nucleated skeletal muscle fibers	dystrophic muscle	abnormal muscle physiology
	Syne1^tm1.1Chen/Syne1^tm1.1Chen
	Syne1^tm1.1Mcn/Syne1^tm1.1Mcn
	Syne1^tm1Rexu/Syne1^tm1Rexu

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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