Phenotypes Associated with This Genotype

Genotype
MGI:4420394

• Allelic Composition: Scn4a^tm1Ljh/Scn4a^tm1Ljh
• Genetic Background: B6.129S4-Scn4a^tm1Ljh

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

mortality/aging

decreased survivor rate ( J:135831 )

• by 30 days, 1.4% of pups are homozygotes, rather than the expected 25%

perinatal lethality, incomplete penetrance ( J:135831 )

• lethality observed in some pups by postnatal day 1

muscle

abnormal skeletal muscle fiber morphology ( J:135831 )

• large vacuolar structures containing a pale amorphous material are observed in muscle fibers

increased variability of skeletal muscle fiber size ( J:135831 )

• increased fiber size variation and frequent internalized nuclei are observed by 2.8 months of age

skeletal muscle atrophy ( J:135831 )

• fixed limb weakness with muscle atrophy

muscle weakness ( J:135831 )

• fixed limb weakness with muscle atrophy

myopathy ( J:135831 )

behavior/neurological

limb grasping ( J:135831 )

• abnormal hind-limb clasping behavior

growth/size/body

decreased body weight ( J:135831 )

• females weigh 16.6 grams by 2.8 months of age in contrast to controls (21.4 grams)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperkalemic periodic paralysis		DOID:14451	OMIM:170500	J:135831