Symbol
Name
ID

Musk
muscle, skeletal, receptor tyrosine kinase
MGI:103581

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Facial palsy	Dysphagia	Easy fatigability	Fatigable weakness	Hydrocephalus	Absent septum pellucidum	Cavum septum pellucidum	Cerebellar hypoplasia
Disease(s) Associated with MUSK	Facial palsy	Dysphagia	Easy fatigability	Fatigable weakness	Hydrocephalus	Absent septum pellucidum	Cavum septum pellucidum	Cerebellar hypoplasia
congenital myasthenic syndrome 9
fetal akinesia deformation sequence syndrome 1

Mouse Phenotypes

abnormal axon extension

abnormal innervation

abnormal innervation pattern to muscle

abnormal phrenic nerve innervation pattern to diaphragm

abnormal motor neuron innervation pattern

abnormal neurite morphology

abnormal neuromuscular synapse morphology

failure of neuromuscular synapse postsynaptic differentiation

failure of neuromuscular synapse presynaptic differentiation

abnormal endplate potential

abnormal miniature endplate potential

Availability

Mouse Genotype

Musk^tm1.2Ics/Musk^tm1.2Ics

Musk^tm1Gdy/Musk^tm1Gdy

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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