Symbol Name ID |
Chrne
cholinergic receptor, nicotinic, epsilon polypeptide MGI:87894 |
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 |
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 |
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Availability | Mouse Genotype | |||||||
Chrnetm1Jrs/Chrnetm1Jrs | ||||||||
Chrnetm1Vwi/Chrnetm1Vwi | ||||||||
Tg(Ckm-Chrne*L269F)5Cgz/? |
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 09/03/2024 MGI 6.24 |
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