Phenotypes associated with this allele

• Allele Symbol: Scn4a^tm1.1Ljh
• Allele Name: targeted mutation 1.1, Lawrence J Hayward
• Allele ID: MGI:4366146
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn4a^tm1.1Ljh/Scn4a^tm1.1Ljh	B6.129S4-Scn4a^tm1.1Ljh	MGI:4420228
ht2	Scn4a^tm1.1Ljh/Scn4a^+	B6.129S4-Scn4a^tm1.1Ljh	MGI:4420396
ht3	Scn4a^m1Aaa/Scn4a^tm1.1Ljh	involves: 129S4/SvJae * BALB/c * C57BL/6J	MGI:5614555

Genotype
MGI:4420228

hm1

• Allelic Composition: Scn4a^tm1.1Ljh/Scn4a^tm1.1Ljh
• Genetic Background: B6.129S4-Scn4a^tm1.1Ljh

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

mortality/aging

decreased survivor rate ( J:135831 )

perinatal lethality, incomplete penetrance ( J:135831 )

• phenotype is stated to be identical to that of Scn4a^tm1Ljh homozygotes, however, no data is presented in J:135831

muscle

abnormal skeletal muscle fiber morphology ( J:135831 )

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

skeletal muscle atrophy ( J:135831 )

muscle weakness ( J:135831 )

myopathy ( J:135831 )

behavior/neurological

limb grasping ( J:135831 )

growth/size/body

decreased body weight ( J:135831 )

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

Genotype
MGI:4420396

ht2

• Allelic Composition: Scn4a^tm1.1Ljh/Scn4a⁺
• Genetic Background: B6.129S4-Scn4a^tm1.1Ljh

muscle

abnormal skeletal muscle fiber morphology ( J:135831 )

• phenotype is stated to be identical to that of Scn4a^tm1Ljh heterozygotes, however, no data is presented in J:135831

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

abnormal muscle physiology ( J:135831 )

impaired skeletal muscle contractility ( J:135831 )

impaired muscle relaxation ( J:135831 )

increased muscle relaxation ( J:135831 )

increased muscle fatigability ( J:135831 )

muscle weakness ( J:135831 )

myopathy ( J:135831 )

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

Genotype
MGI:5614555

ht3

• Allelic Composition: Scn4a^m1Aaa/Scn4a^tm1.1Ljh
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:217522 )

respiratory system

abnormal lung volume ( J:217522 )

respiratory distress ( J:217522 )

muscle

muscle phenotype ( J:217522 )

N • muscles are morphologically normal