Dmpk Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Dmpk
dystrophia myotonica-protein kinase
MGI:94906

17 phenotypes from 4 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Dmpk^em1Sws/Dmpk^em1Sws C57BL/6J-Dmpk^em1Sws	normal muscle phenotype	J:284198
Dmpk^em2Sws/Dmpk^em2Sws involves: C57BL/6J * FVB/NJ	normal muscle phenotype	J:284198
Dmpk^tm1Bew/Dmpk^tm1Bew involves: 129P2/OlaHsd * C57BL/6	abnormal muscle physiology	J:33711, J:43052
Dmpk^tm1Rdd/Dmpk⁺ involves: 129S2/SvPas * C57BL/6J	abnormal sarcomere morphology	J:53077
	atrioventricular block	J:53077
	decreased skeletal muscle fiber diameter	J:33714
	enhanced skeletal muscle regeneration	J:33714
	heart block	J:53077
	impaired skeletal muscle contractility	J:33714
	myopathy	J:33714
	prolonged PR interval	J:53077
Dmpk^tm1Rdd/Dmpk^tm1Rdd involves: 129S2/SvPas * C57BL/6J	abnormal atrioventricular node conduction	J:53077
	abnormal calcium ion homeostasis	J:97257
	abnormal myocardial fiber physiology	J:97257
	abnormal sarcomere morphology	J:33714
	absent Z line	J:33714
	atrioventricular block	J:53077
	dilated sarcoplasmic reticulum	J:33714
	enhanced skeletal muscle regeneration	J:33714
	impaired skeletal muscle contractility	J:33714
	increased variability of skeletal muscle fiber size	J:33714
	myopathy	J:33714
	progressive muscle weakness	J:33714

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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