Symbol
Name
ID

Musk
muscle, skeletal, receptor tyrosine kinase
MGI:103581

Phenotype annotations related to muscle

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

Human Phenotypes

Facial palsy

Camptodactyly of finger

Hip contracture

Wrist flexion contracture

Congenital contracture

Arthrogryposis multiplex congenita

Elbow contracture

Hypotonia

Neonatal hypotonia

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

Easy fatigability

Fatigable weakness

Generalized muscle weakness

Neck muscle weakness

Gowers sign

Generalized amyotrophy

Decreased muscle mass

Disease(s) Associated with MUSK

congenital myasthenic syndrome 9

fetal akinesia deformation sequence syndrome 1

Mouse Phenotypes		muscle phenotype	thin diaphragm muscle	decreased skeletal muscle mass	abnormal muscle electrophysiology	increased muscle fatigability	muscle weakness	progressive muscle weakness
Availability	Mouse Genotype	muscle phenotype	thin diaphragm muscle	decreased skeletal muscle mass	abnormal muscle electrophysiology	increased muscle fatigability	muscle weakness	progressive muscle weakness
	Musk^tm1.2Ics/Musk^tm1.2Ics
	Musk^tm2Vwi/Musk^tm2Vwi	*
	Musk^tm1.1Vwi/Musk^tm2Vwi
	Musk^tm1Vwi/Musk^tm1Vwi Tg(Ckmm-cre)5Khn/0 (conditional)
	Musk^tm1Vwi/Musk^tm1.1Vwi Tg(Ckmm-cre)5Khn/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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