All Phenotypes Scn4a<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Scn4a^tm1.1Ljh/Scn4a⁺	B6.129S4-Scn4a^tm1.1Ljh	MGI:4420396
ht2	Scn4a^tm1Ljh/Scn4a⁺	B6.129S4-Scn4a^tm1Ljh	MGI:4420395
ht3	Scn4a^{tm2b(KOMP)Wtsi}/Scn4a⁺	C57BL/6N-Scn4a^{tm2b(KOMP)Wtsi}/H	MGI:5757680
ht4	Scn4a^tm1.1Cann/Scn4a⁺	involves: 129	MGI:5301551
ht5	Scn4a^m1Aaa/Scn4a⁺	involves: BALB/c * C57BL/6J	MGI:5614553

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn4a^tm1.1Ljh mutation (2 available); any Scn4a mutation (72 available)

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

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

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

muscle

abnormal skeletal muscle fiber morphology ( J:135831 )

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

• fiber size variation and the presence of internalized nuclei are first observed at 4 months of age, becoming increasingly abnormal with age

abnormal muscle physiology ( J:135831 )

• muscle fibers from tibialis anterior, quadriceps and gastrocnemius muscles switch from a mix of glycolytic and oxidative fibers to an increased number of oxidative fibers typical of chronic muscle activity

impaired skeletal muscle contractility ( J:135831 )

• twitch force elicited by direct stimulation of muscle in 8-14 month old mice is 44% of that generated by the control; in younger mice (3-5 month) twitch force is 72%

• under tetanic stimulation, kinetics of force buildup and muscle relaxation from last stimulus are prolonged (110% vs 54% and 39% vs 30%, respectively)

• tetanic force is 34% less in 8-14 months old mice during 100-Hz stimulation compared in control

• peak tetanic force under increased K+ (8mM) conditions is decreased by 46%, while control is increased by 3%

• 88% loss of force is observed under increased K+ (10 mM) conditions as compared to control (9%), in addition, lowering Ca2+ increases weakness, but does not alter recovery time

• tetanic force is further decreased by administration of ouabain (a Na+/K+ pump inhibitor) under increased K+ conditions

impaired muscle relaxation ( J:135831 )

• robust myotonia is observed in hind limbs muscles by one month of age

• increased muscle irritability during electromyography in response to needle movement

increased muscle relaxation ( J:135831 )

• time to relaxation is increased by 69% following direct stimulation compared to control in 8 - 14 month old mice, however, younger (3-5 month) mice do not differ significantly from control

• under tetanic stimulation, kinetics of force buildup and muscle relaxation from last stimulus are prolonged (110% vs 54% and 39% vs 30%, respectively)

increased muscle fatigability ( J:135831 )

• induced fatigue of isolated extensor digitorum longus (EDL) results in delayed weakness (time required for 50% decline in force) and prolonged recovery compared to control

muscle weakness ( J:135831 )

myopathy ( J:135831 )

• mild myopathy is observed at 4 months; scattered internalized nuclei suggest regeneration by satellite cells

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

Allelic Composition	Scn4a^{tm2b(KOMP)Wtsi}/Scn4a⁺
Genetic Background	C57BL/6N-Scn4a^{tm2b(KOMP)Wtsi}/H
Cell Lines	EPD0846_1_H11

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn4a^{tm2b(KOMP)Wtsi} mutation (0 available); any Scn4a mutation (72 available)

Data Sources

IMPC Data for Scn4a

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

hematopoietic system

decreased mean platelet volume ( J:211773 )

IMPC - HAR

homeostasis/metabolism

decreased circulating alkaline phosphatase level ( J:211773 )

IMPC - HAR

increased circulating amylase level ( J:211773 )

IMPC - HAR

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn4a^tm1.1Cann mutation (1 available); any Scn4a mutation (72 available)

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

muscle

muscle weakness ( J:178228 )

• hypokalemic-induced without myotonia

Allelic Composition	Scn4a^m1Aaa/Scn4a⁺
Genetic Background	involves: BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn4a^m1Aaa mutation (1 available); any Scn4a mutation (72 available)

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

mortality/aging

mortality/aging ( J:217522 )

N	• normal life span

behavior/neurological

impaired coordination ( J:217522 )

• progressive deterioration in motor coordination

abnormal grip strength ( J:217522 )

• progressive deterioration

akinesia ( J:217522 )

• intermittent hind-limb immobility

• total recovery after a few seconds

• average onset of episodes is around 16 weeks in males and 25 weeks in females

• earliest onset is around weaning and the latest is around 60 weeks

• number of attacks is greater in males than in females

muscle

abnormal muscle morphology ( J:217522 )

abnormal muscle fiber morphology ( J:217522 )

• fibers in tibialis anterior switch to more oxidative type fibers as early as 12 weeks in age

• progressive muscle pathology at 1.5 years by electron microscopy

• tubular aggregates and irregular triads

increased skeletal muscle fiber size ( J:217522 )

• in 60 week old muscles

centrally nucleated skeletal muscle fibers ( J:217522 )

• increased in 60 week old muscles

abnormal muscle physiology ( J:217522 )

impaired skeletal muscle contractility ( J:217522 )

• time of maximum contraction is significantly higher in 60 week tibialis anterior and extensor digitorum muscles

• high potassium levels result in significant force reduction

abnormal muscle electrophysiology ( J:217522 )

• striking myotonic runs after light movement detected by electromyography regardless of the occurrence of immobility episodes

• intense EMG activity during immobility attacks

impaired muscle relaxation ( J:217522 )

• time of half relaxation is significantly higher in 60 week tibialis anterior and extensor digitorum muscles

increased muscle fatigability ( J:217522 )

• 60 week extensor digitorum is more fatigue resistant

muscle twitch ( J:217522 )

• single twitch force and maximum force are reduced

growth/size/body

slow postnatal weight gain ( J:217522 )

• significantly reduced weight gain after 12 weeks for males but not females

• less total fat but normal food consumption

homeostasis/metabolism

decreased circulating leptin level ( J:217522 )

• at 40 weeks of age

increased energy expenditure ( J:217522 )

• higher whole body energy expenditure in the dark period controlling for total body weight

improved glucose tolerance ( J:217522 )

• relative to controls

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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