Scn4a Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Scn4a
sodium channel, voltage-gated, type IV, alpha
MGI:98250

37 phenotypes from 5 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Scn4a^m1Aaa/Scn4a⁺ involves: BALB/c * C57BL/6J	abnormal grip strength	J:217522
	abnormal muscle electrophysiology	J:217522
	abnormal muscle fiber morphology	J:217522
	abnormal muscle morphology	J:217522
	abnormal muscle physiology	J:217522
	akinesia	J:217522
	centrally nucleated skeletal muscle fibers	J:217522
	decreased circulating leptin level	J:217522
	impaired coordination	J:217522
	impaired muscle relaxation	J:217522
	impaired skeletal muscle contractility	J:217522
	improved glucose tolerance	J:217522
	increased energy expenditure	J:217522
	increased muscle fatigability	J:217522
	increased skeletal muscle fiber size	J:217522
	normal mortality/aging	J:217522
	muscle twitch	J:217522
	slow postnatal weight gain	J:217522
Scn4a^m1Aaa/Scn4a^m1Aaa involves: BALB/c * C57BL/6J	abnormal lung volume	J:217522
	normal muscle phenotype	J:217522
	perinatal lethality, complete penetrance	J:217522
	respiratory distress	J:217522
Scn4a^m1Aaa/Scn4a^tm1.1Ljh involves: 129S4/SvJae * BALB/c * C57BL/6J	abnormal lung volume	J:217522
	normal muscle phenotype	J:217522
	perinatal lethality, complete penetrance	J:217522
	respiratory distress	J:217522
Scn4a^tm1.1Cann/Scn4a⁺ involves: 129	muscle weakness	J:178228
Scn4a^tm1.1Cann/Scn4a^tm1.1Cann involves: 129	abnormal muscle contractility	J:178228
	abnormal muscle fiber morphology	J:178228
	muscle weakness	J:178228
Scn4a^tm1.1Ljh/Scn4a⁺ B6.129S4-Scn4a^tm1.1Ljh	abnormal muscle physiology	J:135831
	abnormal skeletal muscle fiber morphology	J:135831
	impaired muscle relaxation	J:135831
	impaired skeletal muscle contractility	J:135831
	increased muscle fatigability	J:135831
	increased muscle relaxation	J:135831
	increased variability of skeletal muscle fiber size	J:135831
	muscle weakness	J:135831
	myopathy	J:135831
Scn4a^tm1.1Ljh/Scn4a^tm1.1Ljh B6.129S4-Scn4a^tm1.1Ljh	abnormal skeletal muscle fiber morphology	J:135831
	decreased body weight	J:135831
	decreased survivor rate	J:135831
	increased variability of skeletal muscle fiber size	J:135831
	limb grasping	J:135831
	muscle weakness	J:135831
	myopathy	J:135831
	perinatal lethality, incomplete penetrance	J:135831
	skeletal muscle atrophy	J:135831
Scn4a^tm1Ljh/Scn4a⁺ B6.129S4-Scn4a^tm1Ljh	abnormal muscle physiology	J:135831
	abnormal skeletal muscle fiber morphology	J:135831
	impaired muscle relaxation	J:135831
	impaired skeletal muscle contractility	J:135831
	increased muscle fatigability	J:135831
	increased muscle relaxation	J:135831
	increased variability of skeletal muscle fiber size	J:135831
	muscle weakness	J:135831
	myopathy	J:135831
Scn4a^tm1Ljh/Scn4a^tm1Ljh B6.129S4-Scn4a^tm1Ljh	abnormal skeletal muscle fiber morphology	J:135831
	decreased body weight	J:135831
	decreased survivor rate	J:135831
	increased variability of skeletal muscle fiber size	J:135831
	limb grasping	J:135831
	muscle weakness	J:135831
	myopathy	J:135831
	perinatal lethality, incomplete penetrance	J:135831
	skeletal muscle atrophy	J:135831
Scn4a^{tm2b(KOMP)Wtsi}/Scn4a⁺ C57BL/6N-Scn4a^{tm2b(KOMP)Wtsi}/H	decreased circulating alkaline phosphatase level	J:211773
	decreased mean platelet volume	J:211773
	increased circulating amylase level	J:211773
Scn4a^{tm2b(KOMP)Wtsi}/Scn4a^{tm2b(KOMP)Wtsi} C57BL/6N-Scn4a^{tm2b(KOMP)Wtsi}/H	preweaning lethality, complete penetrance	J:211773

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