Symbol
Name
ID

Dmpk
dystrophia myotonica-protein kinase
MGI:94906

Phenotype annotations related to muscle

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

Human Phenotypes	Facial diplegia	Hypotonia	Generalized hypotonia	Muscle weakness	Myotonia
Disease(s) Associated with DMPK
myotonic dystrophy type 1

Mouse Phenotypes

muscle phenotype

abnormal sarcomere morphology

absent Z line

dilated sarcoplasmic reticulum

decreased skeletal muscle fiber diameter

increased variability of skeletal muscle fiber size

abnormal muscle physiology

impaired skeletal muscle contractility

enhanced skeletal muscle regeneration

progressive muscle weakness

myopathy

Availability

Mouse Genotype

Dmpk^em1Sws/Dmpk^em1Sws

Dmpk^em2Sws/Dmpk^em2Sws

Dmpk^tm1Bew/Dmpk^tm1Bew

Dmpk^tm1Rdd/Dmpk^tm1Rdd

Dmpk^tm1Rdd/Dmpk⁺

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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