Phenotypes Associated with This Genotype

Genotype
MGI:5301550

• Allelic Composition: Scn4a^tm1.1Cann/Scn4a^tm1.1Cann
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

abnormal muscle fiber morphology ( J:178228 )

• muscles exhibit very slight dilatation of sarcoplasmic triads compared to in control muscle

abnormal muscle contractility ( J:178228 )

• muscles exhibit increased susceptibility to loss of force generation in low or high potassium, mildly slowed kinetics for the rise and decay of force transients compared with control muscle

• recovery from loss of force is ouabain sensitive

• following glucose and insulin challenge, muscles exhibit loss of excitability and force and a 3-fold increased in compound muscle action potential compared with control muscles

muscle weakness ( J:178228 )

• hypokalemic-induced without myotonia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypokalemic periodic paralysis		DOID:14452	OMIM:170400 OMIM:613345	J:178228