Scn1a Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Scn1a
sodium channel, voltage-gated, type I, alpha
MGI:98246

86 phenotypes from 11 alleles in 19 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Emx1^{tm1.1(cre)Ito}/Emx1⁺ Scn1a^tm2.1Kzy/Scn1a^tm2.1Kzy involves: 129P2/OlaHsd * C57BL/6	abnormal neocortex morphology	J:202863
	normal behavior/neurological phenotype	J:202863
Emx1^{tm1.1(cre)Ito}/Emx1⁺ Scn1a^tm2.1Kzy/Scn1a^tm2.1Kzy Tg(Slc32a1-cre)65Kzy/0 involves: 129P2/OlaHsd * C57BL/6	convulsive seizures	J:202863
	premature death	J:202863
Scn1a^em1Anord/Scn1a⁺ C57BL/6N-Scn1a^em1Anord	abnormal spike wave discharge	J:333350
	normal behavior/neurological phenotype	J:333350
	environmentally induced seizures	J:333350
	normal growth/size/body region phenotype	J:333350
	increased susceptibility to pharmacologically induced seizures	J:333350
Scn1a^em1Anord/Scn1a^em1Anord C57BL/6N-Scn1a^em1Anord	abnormal response to novel object	J:333350
	abnormal spatial working memory	J:333350
	normal behavior/neurological phenotype	J:333350
	decreased birth body size	J:333350
	environmentally induced seizures	J:333350
	hyperactivity	J:333350
	lethality throughout fetal growth and development, incomplete penetrance	J:333350
	normal muscle phenotype	J:333350
	neonatal lethality	J:333350
	postnatal growth retardation	J:333350
	preweaning lethality, incomplete penetrance	J:333350
Scn1a^tm1.1Aesc/Scn1a⁺ involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	increased susceptibility to pharmacologically induced seizures	J:170734
Scn1a^tm1.1Aesc/Scn1a⁺ involves: 129X1/SvJ * C57BL/6J * SJL	abnormal GABA-mediated receptor currents	J:161191
	abnormal spike wave discharge	J:161191
	environmentally induced seizures	J:161191
	increased susceptibility to pharmacologically induced seizures	J:161191
	seizures	J:161191
	tonic seizures	J:161191
	tonic-clonic seizures	J:161191
Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	postnatal lethality, complete penetrance	J:170734
Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc involves: 129X1/SvJ * C57BL/6J * SJL	abnormal GABA-mediated receptor currents	J:161191
	clonic seizures	J:161191
	decreased body weight	J:161191
	environmentally induced seizures	J:161191
	impaired ability to fire action potentials	J:161191
	maximal tonic hindlimb extension seizures	J:161191
	normal nervous system phenotype	J:161191
	postnatal lethality, complete penetrance	J:161191
	seizures	J:161191
	tonic seizures	J:161191
	weight loss	J:161191
Scn1a^tm1.1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C3HeB/FeJ	apnea	J:260796
	decreased heart rate	J:260796
	environmentally induced seizures	J:260796
	increased susceptibility to induced morbidity/mortality	J:260796
	premature death	J:260796
	seizures	J:260796
Scn1a^tm1.1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J	abnormal cardiovascular system physiology	J:209093
	abnormal heart electrocardiography waveform feature	J:209093
	abnormal myocardial fiber physiology	J:209093
	abnormal RR interval	J:209093
	bundle branch block	J:209093
	convulsive seizures	J:209093
	decreased heart rate	J:209093
	increased susceptibility to pharmacologically induced seizures	J:209093
	irregular heartbeat	J:209093
	premature death	J:209093
	prolonged QT interval	J:209093
	ventricular fibrillation	J:209093
	ventricular premature beat	J:209093
Scn1a^tm1.1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C57BL/6	premature death	J:121969
Scn1a^tm1.1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C57BL/6	seizures	J:121969
Scn1a^tm1.1Swl/Scn1a⁺ involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ	premature death	J:221045
Scn1a^tm1.1Swl/Scn1a⁺ involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl	abnormal dendrite morphology	J:221045
	abnormal dendritic spine morphology	J:221045
	abnormal hippocampus granule cell morphology	J:221045
	abnormal miniature excitatory postsynaptic currents	J:221045
	abnormal miniature inhibitory postsynaptic currents	J:221045
	abnormal synaptic transmission	J:221045
	decreased paired-pulse ratio	J:221045
	environmentally induced seizures	J:221045
	premature death	J:221045
	tonic-clonic seizures	J:221045
Scn1a^tm1.1Swl/Scn1a^tm1.1Swl involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl	abnormal gait	J:221045
	decreased body weight	J:221045
	postnatal lethality, complete penetrance	J:221045
	tonic-clonic seizures	J:221045
Scn1a^tm1Kea/Scn1a⁺ 129S6/SvEvTac-Scn1a^tm1Kea	no abnormal phenotype detected	J:203040
Scn1a^tm1Kea/Scn1a⁺ (C57BL/6J x 129S6/SvEvTac-Scn1a^tm1Kea)F1	premature death	J:203040
	seizures	J:203040
Scn1a^tm1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C57BL/6	premature death	J:121969
Scn1a^tm1Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C57BL/6	seizures	J:121969
Scn1a^tm1Kzy/Scn1a^tm1Kzy involves: 129P2/OlaHsd * C57BL/6	abnormal gait	J:121969
	abnormal involuntary movement	J:121969
	decreased body weight	J:121969
	decreased brain size	J:121969
	decreased brain weight	J:121969
	jerky movement	J:121969
	postnatal lethality, complete penetrance	J:121969
	seizures	J:121969
	tonic seizures	J:121969
	tonic-clonic seizures	J:121969
	weight loss	J:121969
Scn1a^tm1Wac/Scn1a⁺ 129-Scn1a^tm1Wac	premature death	J:113149
Scn1a^tm1Wac/Scn1a⁺ B6.129-Scn1a^tm1Wac	abnormal action potential	J:113149
	abnormal brain wave pattern	J:113149
	abnormal habituation to a novel odor	J:188126
	abnormal long-term spatial reference memory	J:188126
	abnormal nervous system electrophysiology	J:113149
	abnormal nest building behavior	J:188126
	abnormal olfactory behavior	J:188126
	abnormal response to novel odor	J:188126
	abnormal response to social novelty	J:188126
	abnormal social investigation	J:188126
	circling	J:188126
	head bobbing	J:113149
	impaired contextual conditioning behavior	J:188126
	impaired spatial learning	J:188126
	increased anxiety-related response	J:188126
	increased grooming behavior	J:188126
	increased locomotor activity	J:188126
	increased thigmotaxis	J:188126
	premature death	J:113149
	seizures	J:113149
Scn1a^tm1Wac/Scn1a⁺ involves: 129S1/Sv * 129X1/SvJ * C57BL/6	premature death	J:113149
	reduced fertility	J:113149
Scn1a^tm1Wac/Scn1a⁺ involves: 129S1/Sv * 129X1/SvJ * FVB/NJ	abnormal spike wave discharge	J:129998
	increased susceptibility to pharmacologically induced seizures	J:129998
	premature death	J:129998
	tonic-clonic seizures	J:129998
Scn1a^tm1Wac/Scn1a⁺ Tg(Scn1a)RH9Aesc/0 involves: 129S1/Sv 129X1/SvJ * FVB/NJ	premature death	J:150454
Scn1a^tm1Wac/Scn1a^tm1Wac B6.129-Scn1a^tm1Wac	abnormal action potential	J:113149
	abnormal nervous system electrophysiology	J:113149
	abnormal postural reflex	J:113149
	abnormal posture	J:113149
	akinesia	J:113149
	ataxia	J:113149
	clonic seizures	J:113149
	convulsive seizures	J:113149
	impaired righting response	J:113149
	postnatal lethality, complete penetrance	J:113149
	seizures	J:113149
	tremors	J:113149
Scn1a^tm1Wac/Scn1a^tm1Wac involves: 129S1/Sv * 129X1/SvJ * FVB/NJ	postnatal lethality, complete penetrance	J:129998
Scn1a^tm1Wac/Scn1a^tm1Wac Tg(Scn1a)RH9Aesc/0 involves: 129S1/Sv 129X1/SvJ * FVB/NJ	postnatal lethality	J:150454
	premature death	J:150454
Scn1a^tm2.1Kzy/Scn1a⁺ Tg(Pvalb-cre)1Tama/0 involves: 129P2/OlaHsd * C57BL/6 * DBA	convulsive seizures	J:202863
	postnatal lethality	J:202863
Scn1a^tm2.1Kzy/Scn1a⁺ Tg(Slc32a1-cre)65Kzy/0 involves: 129P2/OlaHsd * C57BL/6	abnormal brain wave pattern	J:202863
	convulsive seizures	J:202863
	postnatal lethality	J:202863
	premature death	J:202863
Scn1a^tm2.1Kzy/Scn1a^tm2.1Kzy Tg(Pvalb-cre)1Tama/0 involves: 129P2/OlaHsd * C57BL/6 * DBA	ataxia	J:202863
	convulsive seizures	J:202863
	premature death	J:202863
Scn1a^tm2.1Kzy/Scn1a^tm2.1Kzy Tg(Slc32a1-cre)65Kzy/0 involves: 129P2/OlaHsd * C57BL/6	abnormal cerebellar molecular layer	J:202863
	abnormal hippocampus neuron morphology	J:202863
	abnormal neocortex morphology	J:202863
	convulsive seizures	J:202863
	decreased locomotor activity	J:202863
	postnatal lethality, complete penetrance	J:202863
Scn1a^tm2.1Wac/Scn1a⁺ Tg(I12b-cre)1Jlr/0 involves: 129X1/SvJ * C57BL/6J	abnormal inhibitory postsynaptic currents	J:188126
	abnormal social investigation	J:188126
	circling	J:188126
	impaired contextual conditioning behavior	J:188126
	increased anxiety-related response	J:188126
	increased excitatory postsynaptic current frequency	J:188126
	increased locomotor activity	J:188126
	increased thigmotaxis	J:188126
Scn1a^tm2.1Wac/Scn1a⁺ Tg(I12b-cre)1Jlr/0 involves: C57BL/6J * CD-1	clonic seizures	J:189897
	environmentally induced seizures	J:189897
	postnatal lethality, incomplete penetrance	J:189897
	premature death	J:189897
	seizures	J:189897
	tonic-clonic seizures	J:189897
Scn1a^tm2.2Kzy/Scn1a⁺ involves: 129P2/OlaHsd * C57BL/6 * FVB/N	convulsive seizures	J:202863
	premature death	J:202863
Scn1a^tm2.2Kzy/Scn1a^tm2.2Kzy involves: 129P2/OlaHsd * C57BL/6 * FVB/N	ataxia	J:202863
	convulsive seizures	J:202863
	postnatal lethality, complete penetrance	J:202863
	weight loss	J:202863
Tg(Scn1a*)RH9Aesc/0 involves: FVB/NJ	abnormal neuron physiology	J:150454
Tg(Scn1a*)RH9Aesc/0 involves: FVB/NJ	increased susceptibility to pharmacologically induced seizures	J:150454

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