Scn8a Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Scn8a
sodium channel, voltage-gated, type VIII, alpha
MGI:103169

87 phenotypes from 22 alleles in 32 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Scn8a^4J/Scn8a^4J C57BL/6J-Scn8a^4J/J	decreased body size	J:78134
	hindlimb paralysis	J:78134
	premature death	J:78134, J:90095
Scn8a^5J/Scn8a^5J C57BL/6J-Scn8a^5J/J	abnormal brain morphology	J:78134
	decreased cerebellar granule cell number	J:78134
	enlarged brain ventricles	J:78134
	hindlimb paralysis	J:78134, J:90095
	hydrocephaly	J:78134
	postnatal lethality, complete penetrance	J:78134, J:90095
Scn8a^6J/Scn8a^6J C57BL/6J-Scn8a^6J/J	abnormal gait	J:78134
	decreased body weight	J:78134
	hindlimb paralysis	J:90095
	muscular atrophy	J:90095
	normal nervous system phenotype	J:90095
	premature death	J:90095
Scn8a^7J/Scn8a^7J involves: BALB/cByJ * C57BL/6J	abnormal cerebellum external granule cell layer morphology	J:87349
	abnormal posture	J:87349
	abnormal ventral spinal root morphology	J:87349
	ataxia	J:87349
	decreased skeletal muscle fiber size	J:87349
	head tossing	J:87349
	limb grasping	J:87349
	myoclonus	J:87349
	myopathy	J:87349
	peripheral nervous system degeneration	J:87349
Scn8a^8J/Scn8a⁺ involves: C3HeB/FeJ * C57BL/6J	abnormal spike wave discharge	J:147199
Scn8a^8J/Scn8a^8J involves: C3HeB/FeJ * C57BL/6J	abnormal gait	J:147199
	abnormal locomotor behavior	J:147199
	abnormal spike wave discharge	J:147199
	decreased body size	J:147199
	postnatal lethality	J:147199
	premature death	J:147199
Scn8a^9J/Scn8a⁺ B6J.C-Scn8a^9J/Mm	decreased locomotor activity	J:230867
Scn8a^9J/Scn8a^9J B6J.C-Scn8a^9J/Mm	abnormal gait	J:230867
	abnormal motor capabilities/coordination/movement	J:230867
	abnormal neuron physiology	J:230867
	ataxia	J:230867
	decreased body weight	J:230867
	decreased grip strength	J:230867
	decreased nerve conduction velocity	J:230867
	dystonia	J:230867
	muscle weakness	J:230867
	premature death	J:230867
	tremors	J:230867
Scn8a^9J/Scn8a^9J BALB/cJ-Scn8a^9J/GrsrJ	abnormal motor coordination/balance	J:220447
	premature death	J:220447
	tremors	J:220447
Scn8a^Clth/Scn8a⁺ involves: BALB/c	abnormal pinna reflex	J:250208
	absent pinna reflex	J:250208
	normal hearing/vestibular/ear phenotype	J:250208
	increased or absent threshold for auditory brainstem response	J:250208
Scn8a^Clth/Scn8a⁺ involves: BALB/cAnN * C3H/HeH	abnormal behavior	J:155726
	abnormal pilomotor reflex	J:155726
	abnormal pinna reflex	J:155726
	absent pinna reflex	J:155726
	decreased body weight	J:155726
	decreased startle reflex	J:155726
	normal hearing/vestibular/ear phenotype	J:155726
	hunched posture	J:155726
	impaired hearing	J:155726
	increased or absent threshold for auditory brainstem response	J:155726
	tremors	J:155726
Scn8a^Clth/Scn8a^Clth involves: BALB/c	decreased startle reflex	J:250208
	normal hearing/vestibular/ear phenotype	J:250208
	increased or absent threshold for auditory brainstem response	J:250208
Scn8a^Clth/Scn8a^Clth involves: BALB/cAnN * C3H/HeH	abnormal auditory brainstem response waveform shape	J:155726
	abnormal behavior	J:155726
	abnormal pilomotor reflex	J:155726
	abnormal reflex	J:155726
	decreased body weight	J:155726
	decreased Purkinje cell number	J:155726
	decreased startle reflex	J:155726
	enhanced behavioral response to anesthetic	J:155726
	normal hearing/vestibular/ear phenotype	J:155726
	hunched posture	J:155726
	impaired coordination	J:155726
	impaired hearing	J:155726
	increased anxiety-related response	J:155726
	increased or absent threshold for auditory brainstem response	J:155726
	normal mortality/aging	J:155726
	small cerebellum	J:155726
	tremors	J:155726
Scn8a^dmu/Scn8a^dmu involves: C3H * C57BL/6	abnormal atrium endocardium morphology	J:71615
	abnormal heart septum morphology	J:71615
	abnormal heart ventricle morphology	J:71615
	decreased body weight	J:71615
	dystrophic muscle	J:71615
	hindlimb paralysis	J:71615
	muscle degeneration	J:71615
	myocardial fiber degeneration	J:71615
	normal nervous system phenotype	J:71615
	premature death	J:71615
	respiratory distress	J:71615
	skeletal muscle necrosis	J:71615
Scn8a^dmu/Scn8a^dmu involves: C3H * C57BL/6 * C57BL/6J	abnormal eye electrophysiology	J:98511
Scn8a^dmu/Scn8a^dmu involves: C3H * C57BL/6 * DBA/2J	abnormal eye electrophysiology	J:98511
Scn8a^dmu/Scn8a^dmu involves: C3H * C57BL/6 * DBA/2J	normal vision/eye phenotype	J:98511
Scn8a^dmu/Scn8a^med involves: C3H * C3HeB/Fe * C57BL/6	abnormal voluntary movement	J:71615
	dystrophic muscle	J:71615
	hindlimb paralysis	J:71615
	postnatal lethality	J:71615
Scn8a^em1(IMPC)Bay/Scn8a⁺ C57BL/6N-Scn8a^em1(IMPC)Bay/BayMmucd	increased spleen weight	J:211773
Scn8a^em1(IMPC)Bay/Scn8a^em1(IMPC)Bay C57BL/6N-Scn8a^em1(IMPC)Bay/BayMmucd	preweaning lethality, incomplete penetrance	J:211773
Scn8a^em1Mm/Scn8a⁺ involves: C57BL/6J * SJL	abnormal behavior	J:207931
	premature death	J:207931
	seizures	J:207931
Scn8a^M1Btlr/Scn8a⁺ C57BL/6J-Scn8a^M1Btlr	abnormal gait	J:139714
Scn8a^M1Btlr/Scn8a⁺ C57BL/6J-Scn8a^M1Btlr	tremors	J:139714
Scn8a^M1Btlr/Scn8a^M1Btlr C57BL/6J-Scn8a^M1Btlr	abnormal gait	J:139714
Scn8a^M1Btlr/Scn8a^M1Btlr C57BL/6J-Scn8a^M1Btlr	tremors	J:139714
Scn8a^m2Btlr/Scn8a^m2Btlr C57BL/6J-Scn8a^m2Btlr	hindlimb paralysis	J:203623
Scn8a^m3Btlr/Scn8a^m3Btlr C57BL/6J-Scn8a^m3Btlr	ataxia	J:215819
	decreased body weight	J:215819
	tremors	J:215819
Scn8a^m10J/Scn8a⁺ FVB/NJ-Scn8a^m10J/GrsrCx	decreased nerve conduction velocity	J:240096
Scn8a^m10J/Scn8a^m10J FVB/NJ-Scn8a^m10J/GrsrCx	ataxia	J:199990
	decreased body size	J:199990
	paralysis	J:199990
	postnatal lethality, complete penetrance	J:199990
	tremors	J:199990
Scn8a^m11J/Scn8a^m11J B6.Cg-Scn8a^m11J/GrsrJ	ataxia	J:231578
	decreased body size	J:231578
	hindlimb paralysis	J:231578
	impaired muscle relaxation	J:231578
	paralysis	J:231578
	postnatal lethality, complete penetrance	J:231578
Scn8a^med-J/Scn8a^med-J involves: STOCK Krt71^Ca	abnormal gait	J:141236
	ataxia	J:141236
	dystonia	J:141236
	normal mortality/aging	J:141236
	tremors	J:141236
Scn8a^med-jo2J/Scn8a^med-jo2J B6(129S7)-Scn8a^med-jo2J/J	abnormal gait	J:92160
	axon degeneration	J:92160
	cervical vertebrae degeneration	J:92160
	increased or absent threshold for auditory brainstem response	J:92160
	oligozoospermia	J:92160
	postnatal lethality, incomplete penetrance	J:92160
	Purkinje cell degeneration	J:92160
	tremors	J:92160
Scn8a^med-jo/Scn8a⁺ B6.D2-Scn8a^med-jo/J	abnormal spike wave discharge	J:147199
Scn8a^med-jo/Scn8a⁺ B6.D2-Scn8a^med-jo/J	decreased susceptibility to pharmacologically induced seizures	J:129998, J:170734
Scn8a^med-jo/Scn8a^med-jo DBA/2WyDi-Scn8a^med-jo	abnormal nervous system electrophysiology	J:14894
	impaired limb coordination	J:15056
	normal muscle phenotype	J:24907
	normal nervous system phenotype	J:24907
	Purkinje cell degeneration	J:14894
	tremors	J:15056
Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs B6.Cg-Scn8a^med-TgA4Bs	abnormal eye electrophysiology	J:110231
Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs involves: C3H * C57BL/6J	decreased body weight	J:24228
	hindlimb paralysis	J:24228
	impaired balance	J:24228
	limb grasping	J:24228
	muscular atrophy	J:24228
	normal nervous system phenotype	J:24228
	premature death	J:24228
Scn8a^med-TgA4Bs/Scn8a^nur14 involves: C3H * C57BL/6J	ataxia	J:146758
	postnatal lethality	J:146758
	tremors	J:146758
Scn8a^med/Scn8a⁺ C3Fe.Cg-Scn8a^med/J	abnormal spike wave discharge	J:147199
Scn8a^med/Scn8a⁺ C3Fe.Cg-Scn8a^med/J	decreased susceptibility to pharmacologically induced seizures	J:129998
Scn8a^med/Scn8a^med involves: C3HeB/FeJ * DBA/2J	abnormal eye electrophysiology	J:98511
Scn8a^med/Scn8a^med PCT	abnormal action potential	J:5192
	abnormal endplate potential	J:5192
	abnormal miniature endplate potential	J:5192
	abnormal muscle physiology	J:5192
	abnormal muscle tone	J:28679
	abnormal nerve conduction	J:6888
	abnormal neuromuscular synapse morphology	J:5153, J:28678
	demyelination	J:6888, J:7297
	hindlimb paralysis	J:28679
	muscular atrophy	J:5153
	paraparesis	J:28679
	postnatal lethality	J:5153, J:28678, J:28679
	progressive muscle weakness	J:5153, J:28678
Scn8a^nur14/Scn8a^nur14 C57BL/6J-Scn8a^nur14	ataxia	J:146758
	hindlimb paralysis	J:146758
	premature death	J:146758
	tremors	J:146758
Scn8a^nur14/Scn8a^nur14 involves: C57BL/6J	hindlimb paralysis	J:85113
Scn8a^nur14/Scn8a^nur14 involves: C57BL/6J	postnatal lethality, complete penetrance	J:85113
Scn8a^tm1Mm/Scn8a^tm1Mm Tg(Zp3-cre)3Mrt/? involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	ataxia	J:91696
	hindlimb paralysis	J:91696
	premature death	J:91696

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24