Symbol
Name
ID

Chrne
cholinergic receptor, nicotinic, epsilon polypeptide
MGI:87894

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Weakness of facial musculature

Facial palsy

Frontalis muscle weakness

Distal lower limb muscle weakness

Limb muscle weakness

Limb-girdle muscle weakness

Arthrogryposis multiplex congenita

Hypotonia

Generalized hypotonia

Generalized hypotonia due to defect at the neuromuscular junction

Neonatal hypotonia

EMG: impaired neuromuscular transmission

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

EMG: myopathic abnormalities

Difficulty walking

Easy fatigability

Muscle spasm

Muscle weakness

Bulbar palsy

Fatigable weakness

Fatigable weakness of skeletal muscles

Generalized muscle weakness

Neck muscle weakness

Poor head control

Proximal muscle weakness

Gowers sign

Respiratory insufficiency due to muscle weakness

Intermittent episodes of respiratory insufficiency due to muscle weakness

Muscle fiber atrophy

Type 2 muscle fiber atrophy

Skeletal muscle atrophy

Distal amyotrophy

Decreased muscle mass

Myopathy

Disease(s) Associated with CHRNE

congenital myasthenic syndrome

congenital myasthenic syndrome 4A

congenital myasthenic syndrome 4B

congenital myasthenic syndrome 4C

Mouse Phenotypes		abnormal skeletal muscle fiber morphology	skeletal muscle fiber degeneration	decreased muscle weight	abnormal skeletal muscle morphology	skeletal muscle atrophy	impaired skeletal muscle contractility	muscle weakness
Availability	Mouse Genotype	abnormal skeletal muscle fiber morphology	skeletal muscle fiber degeneration	decreased muscle weight	abnormal skeletal muscle morphology	skeletal muscle atrophy	impaired skeletal muscle contractility	muscle weakness
	Chrne^tm1Jrs/Chrne^tm1Jrs
	Chrne^tm1Vwi/Chrne^tm1Vwi
	Tg(Ckm-Chrne*L269F)5Cgz/?

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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