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Nav1.6

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Target not currently curated in GtoImmuPdb

Target id: 583

Nomenclature: Nav1.6

Family: Voltage-gated sodium channels (NaV)

Gene and Protein Information Click here for help
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 24 1 1980 12q13.13 SCN8A sodium voltage-gated channel alpha subunit 8 2-3,23
Mouse 24 1 1978 15 F1 Scn8a sodium channel, voltage-gated, type VIII, alpha 3,27
Rat 24 1 1978 7q36 Scn8a sodium voltage-gated channel alpha subunit 8 5,25
Previous and Unofficial Names Click here for help
CerIII | NaCh6 | PN4 | MED | peripheral nerve protein type 4 | sodium channel 6 | sodium channel protein type 8 subunit alpha | ataxia 3 | mnd2 | nur14 | seal | dmu | sodium channel, voltage gated, type VIII, alpha subunit | sodium channel, voltage gated, type VIII alpha subunit | sodium channel
Database Links Click here for help
Alphafold
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Associated Proteins Click here for help
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
β4 32
β3 19
β2 6,10
β1 9,17
Other Associated Proteins
Name References
Not determined
Functional Characteristics Click here for help
Activation V0.5 = -29 mV. Fast inactivation (1 ms)
Voltage Dependence Click here for help
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -28.7 - 2 HEK 293 cells. Human
Inactivation  -71.9 - 2
Comments  Human channels expressed without β subunits.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -18.7 0.1 8 Nav1.8 null mouse DRG neurons. Mouse
Inactivation  -64.1 1.0 8
Comments  Mouse channel with a TTX-resistant mutation (Y371S), kinetics measured at -10mV.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -8.5 - 27 Xenopus laevis oocyte Mouse
Inactivation  -54.7 - 27
Comments  Mouse channel without β subunits.

Download all structure-activity data for this target as a CSV file go icon to follow link

Activators
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
β-scorpion toxin Cn2 Peptide Hs - - - 3x10-7 - 1x10-8 - 26
Conc range: 3x10-7 - 1x10-8 M [26]
batrachotoxin Small molecule or natural product Click here for species-specific activity table Hs - - - - -
veratridine Small molecule or natural product Click here for species-specific activity table Hs - - - - -
Activator Comments
Several scorpion toxins have been reported as potential activators of Nav1.6 (for example β-scorpion toxin Tz1) [15].
Inhibitors
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
zandatrigine Small molecule or natural product Hs Inhibition 7.3 pIC50 - - 11
pIC50 7.3 (IC50 5.1x10-8 M) [11]
GNE-131 Small molecule or natural product Click here for species-specific activity table Hs Inhibition 7.0 pIC50 - - 7
pIC50 7.0 (IC50 9.2x10-8 M) [7]
Description: IC50s were generated from pooled data generated on QPatch or Qube automated voltage-clamp platforms, with the membrane potential maintained at a voltage yielding full inactivation of the channel.
relutrigine Small molecule or natural product Click here for species-specific activity table Hs Inhibition 6.8 pIC50 - - 12
pIC50 6.8 (IC50 1.41x10-7 M) [12]
Description: Inhibition of ATX-II-induced sodium current in hNaV1-6-expressing HEK-293 cells by patch clamp electrophysiology.
relutrigine Small molecule or natural product Mm Inhibition 6.8 pIC50 - - 12
pIC50 6.8 (IC50 1.45x10-7 M) [12]
funapide Small molecule or natural product Click here for species-specific activity table Hs Inhibition 6.8 pIC50 - - 20
pIC50 6.8 (IC50 1.7x10-7 M) [20]
Description: Inhibition of human Nav1.6 expressed in HEK293 cells by electrophysiology assay
relutrigine Small molecule or natural product Rn Inhibition 6.7 pIC50 - - 12
pIC50 6.7 (IC50 1.8x10-7 M) [12]
AM-6120 Peptide Click here for species-specific activity table Immunopharmacology Ligand Hs Inhibition 6.2 pIC50 - - 31
pIC50 6.2 (IC50 6.04x10-7 M) [31]
Description: Determined in a PatchXpress electrophysiology experiment using HEK293 cells stably expressing hNaV1.6.
PF-04885614 Small molecule or natural product Click here for species-specific activity table Hs Inhibition 5.4 pIC50 - - 1
pIC50 5.4 (IC50 4.2x10-6 M) [1]
View species-specific inhibitor tables
Gating inhibitors Click here for help
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
ATX-II Peptide Click here for species-specific activity table Hs Slows inactivation 6.7 pEC50 - -80.0 21
pEC50 6.7 [21]
Holding voltage: -80.0 mV
AFT-II Peptide Click here for species-specific activity table Hs Slows inactivation 6.5 pEC50 - -80.0 21
pEC50 6.5 [21]
Holding voltage: -80.0 mV
Bc-III Peptide Click here for species-specific activity table Hs Slows inactivation 6.0 pEC50 - -80.0 21
pEC50 6.0 [21]
Holding voltage: -80.0 mV
Gating Inhibitor Comments
α scorpion toxins have been reported to inhibit a variety of NaV1.x ion channels including NaV1.6 [13]
Channel Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
GNE-616 Small molecule or natural product Click here for species-specific activity table Hs Inhibition 7.5 pKd - - 18
pKd 7.5 (Kd 2.9x10-8 M) [18]
Description: Kd determined in a Dynaflow Manual Patch Clamp experiment.
tetrodotoxin Small molecule or natural product Click here for species-specific activity table Rn Pore blocker 9.0 pIC50 - -130.0 5
pIC50 9.0 (IC50 1x10-9 M) [5]
Holding voltage: -130.0 mV
tetrodotoxin Small molecule or natural product Mm Pore blocker 8.2 pIC50 - -60.0 27
pIC50 8.2 [27]
Holding voltage: -60.0 mV
4,9-anhydro-tetrodotoxin Small molecule or natural product Mm Inhibition 7.8 pIC50 - -100.0 24
pIC50 7.8 [24]
Holding voltage: -100.0 mV
saxitoxin Small molecule or natural product Click here for species-specific activity table Ligand has a PDB structure Hs Pore blocker - - - -
View species-specific channel blocker tables
Tissue Distribution Click here for help
PNS: Dorsal root ganglia, nodes of Ranvier of sensory and motor axons.
Species:  Rat
Technique:  Immunohistochemistry
References:  4,25,28
CNS: Somato-dendritic distribution in output neurons of the cerebellum, cerebral cortex and hippocampus, Purkinje cells in the cerebellar granule cell layer, brainstem and spinal cord, astrocytes and Schwann cells, nodes of Ranvier.
Species:  Rat
Technique:  Immunohistochemistry
References:  25,28,30
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0005402 abnormal action potential PMID: 4323310 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0010492 abnormal atrium endocardium morphology PMID: 11532991 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0004924 abnormal behavior PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0004924 abnormal behavior PMID: 19737145 
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0002152 abnormal brain morphology
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0000822 abnormal brain ventricle morphology
Scn8amed-J|Scnm1tm1.1Mm Scn8amed-J/Scn8amed-J,Scnm1tm1.1Mm/Scnm1tm1.1Mm
involves: C57BL/6 * FVB * SJL * STOCK Krt71
MGI:103169  MGI:1341284  MP:0005621 abnormal cell physiology PMID: 18791226 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J * STOCK Krt71
MGI:103169  MGI:1341284  MP:0005621 abnormal cell physiology PMID: 18791226 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0000872 abnormal cerebellum external granule cell layer morphology
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0002914 abnormal endplate potential PMID: 4323310 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6 * C57BL/6J
MGI:103169  MP:0005551 abnormal eye electrophysiology PMID: 15901786 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6 * DBA/2J
MGI:103169  MP:0005551 abnormal eye electrophysiology PMID: 15901786 
Scn8amed Scn8amed/Scn8amed
involves: C3HeB/FeJ * DBA/2J
MGI:103169  MP:0005551 abnormal eye electrophysiology PMID: 15901786 
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
B6.Cg-Scn8a
MGI:103169  MP:0005551 abnormal eye electrophysiology PMID: 16822974 
Scn8a6J Scn8a6J/Scn8a6J
C57BL/6J-Scn8a<6J>/J
MGI:103169  MP:0001406 abnormal gait
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0001406 abnormal gait
Scn8am1Btlr Scn8am1Btlr/Scn8am1Btlr
C57BL/6J-Scn8a
MGI:103169  MP:0001406 abnormal gait
Scn8a+|Scn8am1Btlr Scn8am1Btlr/Scn8a+
C57BL/6J-Scn8a
MGI:103169  MP:0001406 abnormal gait
Scn8amed-J Scn8amed-J/Scn8amed-J
involves: STOCK Krt71
MGI:103169  MP:0001406 abnormal gait PMID: 18791226 
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0001406 abnormal gait PMID: 19254928 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0006113 abnormal heart septum morphology PMID: 11532991 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0005294 abnormal heart ventricle morphology PMID: 11532991 
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0001392 abnormal locomotor activity PMID: 19254928 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0004835 abnormal miniature endplate potential PMID: 4323310 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0002106 abnormal muscle physiology PMID: 4323310 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0004142 abnormal muscle tone
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0005403 abnormal nerve conduction PMID: 6127695 
Scn8amed-jo Scn8amed-jo/Scn8amed-jo
DBA/2WyDi-Scn8a
MGI:103169  MP:0002272 abnormal nervous system electrophysiology
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0001053 abnormal neuromuscular synapse morphology PMID: 4315332 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001492 abnormal pilomotor reflex PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001492 abnormal pilomotor reflex PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001485 abnormal pinna reflex PMID: 19737145 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0001504 abnormal posture
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001961 abnormal reflex PMID: 19737145 
Scn8a+|Scn8amed Scn8amed/Scn8a+
C3Fe.Cg-Scn8a/J
MGI:103169  MP:0008840 abnormal spike wave discharge PMID: 19254928 
Scn8a+|Scn8amed-jo Scn8amed-jo/Scn8a+
B6.D2-Scn8a/J
MGI:103169  MP:0008840 abnormal spike wave discharge PMID: 19254928 
Scn1a+|Scn1atm1Wac|Scn8a+|Scn8amed-jo Scn1atm1Wac/Scn1a+,Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ
MGI:103169  MGI:98246  MP:0008840 abnormal spike wave discharge PMID: 17881658 
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0008840 abnormal spike wave discharge PMID: 19254928 
Scn8a+|Scn8a8J Scn8a8J/Scn8a+
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0008840 abnormal spike wave discharge PMID: 19254928 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0003993 abnormal ventral spinal root morphology
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0003491 abnormal voluntary movement
Scn8admu|Scn8amed Scn8admu/Scn8amed
involves: C3H * C3HeB/Fe * C57BL/6
MGI:103169  MP:0003491 abnormal voluntary movement PMID: 11532991 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0006358 absent pinna reflex PMID: 19737145 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J
MGI:103169  MGI:1341284  MP:0001393 ataxia PMID: 12374766 
Scn8atm1Mm|Tg(Zp3-cre)3Mrt Scn8atm1Mm/Scn8atm1Mm,Tg(Zp3-cre)3Mrt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MGI:103169  MGI:2176051  MP:0001393 ataxia PMID: 15286995 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0001393 ataxia
Scn8amed-J Scn8amed-J/Scn8amed-J
involves: STOCK Krt71
MGI:103169  MP:0001393 ataxia PMID: 18791226 
Scn8anur14 Scn8anur14/Scn8anur14
C57BL/6J-Scn8a
MGI:103169  MP:0001393 ataxia PMID: 19261867 
Scn8amed-TgA4Bs|Scn8anur14 Scn8amed-TgA4Bs/Scn8anur14
involves: C3H * C57BL/6J
MGI:103169  MP:0001393 ataxia PMID: 19261867 
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0005405 axon degeneration
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0004709 cervical vertebrae degeneration
Scn8a4J Scn8a4J/Scn8a4J
C57BL/6J-Scn8a<4J>/J
MGI:103169  MP:0001265 decreased body size
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0001265 decreased body size PMID: 19254928 
Scn8a6J Scn8a6J/Scn8a6J
C57BL/6J-Scn8a<6J>/J
MGI:103169  MP:0001262 decreased body weight
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0001262 decreased body weight PMID: 11532991 
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0001262 decreased body weight PMID: 7601440 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001262 decreased body weight PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001262 decreased body weight PMID: 19737145 
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0004765 decreased brainstem auditory evoked potential
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0004765 decreased brainstem auditory evoked potential PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0004765 decreased brainstem auditory evoked potential PMID: 19737145 
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0008924 decreased cerebellar granule cell number
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0000880 decreased Purkinje cell number PMID: 19737145 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0009400 decreased skeletal muscle fiber size
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001489 decreased startle reflex PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001489 decreased startle reflex PMID: 19737145 
Scn8a+|Scn8amed Scn8amed/Scn8a+
C3Fe.Cg-Scn8a/J
MGI:103169  MP:0002887 decreased susceptibility to pharmacologically induced seizures PMID: 17881658 
Scn8a+|Scn8amed-jo Scn8amed-jo/Scn8a+
B6.D2-Scn8a/J
MGI:103169  MP:0002887 decreased susceptibility to pharmacologically induced seizures PMID: 17881658 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0000921 demyelination PMID: 6127695  6319212 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J
MGI:103169  MGI:1341284  MP:0005323 dystonia PMID: 12374766 
Scn8amed-J Scn8amed-J/Scn8amed-J
involves: STOCK Krt71
MGI:103169  MP:0005323 dystonia PMID: 18791226 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0000752 dystrophic muscle PMID: 11532991 
Scn8admu|Scn8amed Scn8admu/Scn8amed
involves: C3H * C3HeB/Fe * C57BL/6
MGI:103169  MP:0000752 dystrophic muscle PMID: 11532991 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0009779 enhanced behavioral response to anesthetic PMID: 19737145 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0005307 head tossing
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0000755 hindlimb paralysis
Scn8a4J Scn8a4J/Scn8a4J
C57BL/6J-Scn8a<4J>/J
MGI:103169  MP:0000755 hindlimb paralysis
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0000755 hindlimb paralysis
Scn8anur14 Scn8anur14/Scn8anur14
involves: C57BL/6J
MGI:103169  MP:0000755 hindlimb paralysis PMID: 12955145 
Scn8atm1Mm|Tg(Zp3-cre)3Mrt Scn8atm1Mm/Scn8atm1Mm,Tg(Zp3-cre)3Mrt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MGI:103169  MGI:2176051  MP:0000755 hindlimb paralysis PMID: 15286995 
Scn8amed-J|Scnm1tm1.1Mm Scn8amed-J/Scn8amed-J,Scnm1tm1.1Mm/Scnm1tm1.1Mm
involves: C57BL/6 * FVB * SJL * STOCK Krt71
MGI:103169  MGI:1341284  MP:0000755 hindlimb paralysis PMID: 18791226 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0000755 hindlimb paralysis PMID: 11532991 
Scn8admu|Scn8amed Scn8admu/Scn8amed
involves: C3H * C3HeB/Fe * C57BL/6
MGI:103169  MP:0000755 hindlimb paralysis PMID: 11532991 
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0000755 hindlimb paralysis PMID: 7601440 
Scn8anur14 Scn8anur14/Scn8anur14
C57BL/6J-Scn8a
MGI:103169  MP:0000755 hindlimb paralysis PMID: 19261867 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001505 hunched posture PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001505 hunched posture PMID: 19737145 
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0001891 hydroencephaly
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0001525 impaired balance PMID: 7601440 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001405 impaired coordination PMID: 19737145 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0006325 impaired hearing PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0006325 impaired hearing PMID: 19737145 
Scn8amed-jo Scn8amed-jo/Scn8amed-jo
DBA/2WyDi-Scn8a
MGI:103169  MP:0001524 impaired limb coordination
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0001363 increased anxiety-related response PMID: 19737145 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0001513 limb grasping
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0001513 limb grasping PMID: 7601440 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0000749 muscle degeneration PMID: 11532991 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J * STOCK Krt71
MGI:103169  MGI:1341284  MP:0000747 muscle weakness PMID: 18791226 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0002269 muscular atrophy PMID: 4315332 
Scn8a6J Scn8a6J/Scn8a6J
C57BL/6J-Scn8a<6J>/J
MGI:103169  MP:0002269 muscular atrophy PMID: 15170223 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J
MGI:103169  MGI:1341284  MP:0002269 muscular atrophy PMID: 12374766 
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0002269 muscular atrophy PMID: 7601440 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0004566 myocardial fiber degeneration PMID: 11532991 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0000243 myoclonus
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0000751 myopathy
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0002687 oligozoospermia
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J
MGI:103169  MGI:1341284  MP:0000753 paralysis PMID: 12374766 
Scn8a7J Scn8a7J/Scn8a7J
involves: BALB/cByJ * C57BL/6J
MGI:103169  MP:0000958 peripheral nervous system degeneration
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0002082 postnatal lethality PMID: 4315332 
Scn8anur14 Scn8anur14/Scn8anur14
involves: C57BL/6J
MGI:103169  MP:0002082 postnatal lethality PMID: 12955145 
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0002082 postnatal lethality
Scn8amed-J|Scnm1I112T Scn8amed-J/Scn8amed-J,Scnm1I112T/Scnm1I112T
involves: C57BL/6 * STOCK Krt71
MGI:103169  MGI:1341284  MP:0002082 postnatal lethality PMID: 18791226 
Scn8admu|Scn8amed Scn8admu/Scn8amed
involves: C3H * C3HeB/Fe * C57BL/6
MGI:103169  MP:0002082 postnatal lethality PMID: 11532991 
Scn1atm1Wac|Scn8a+|Scn8amed-jo Scn1atm1Wac/Scn1atm1Wac,Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ
MGI:103169  MGI:98246  MP:0002082 postnatal lethality PMID: 17881658 
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0002082 postnatal lethality PMID: 19254928 
Scn8amed-TgA4Bs|Scn8anur14 Scn8amed-TgA4Bs/Scn8anur14
involves: C3H * C57BL/6J
MGI:103169  MP:0002082 postnatal lethality PMID: 19261867 
Scn8a4J Scn8a4J/Scn8a4J
C57BL/6J-Scn8a<4J>/J
MGI:103169  MP:0002083 premature death
Scn8a5J Scn8a5J/Scn8a5J
C57BL/6J-Scn8a<5J>/J
MGI:103169  MP:0002083 premature death
Scn8a6J Scn8a6J/Scn8a6J
C57BL/6J-Scn8a<6J>/J
MGI:103169  MP:0002083 premature death
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J
MGI:103169  MGI:1341284  MP:0002083 premature death PMID: 12374766 
Scn8atm1Mm|Tg(Zp3-cre)3Mrt Scn8atm1Mm/Scn8atm1Mm,Tg(Zp3-cre)3Mrt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MGI:103169  MGI:2176051  MP:0002083 premature death PMID: 15286995 
Scn8amed-J|Scnm1tm1.1Mm Scn8amed-J/Scn8amed-J,Scnm1tm1.1Mm/Scnm1tm1.1Mm
involves: C57BL/6 * FVB * SJL * STOCK Krt71
MGI:103169  MGI:1341284  MP:0002083 premature death PMID: 18791226 
Scn8amed-J|Scnm1s Scn8amed-J/Scn8amed-J,Scnm1s/Scnm1s
involves: C57BL/6J * STOCK Krt71
MGI:103169  MGI:1341284  MP:0002083 premature death PMID: 18791226 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0002083 premature death PMID: 11532991 
Scn8amed-TgA4Bs Scn8amed-TgA4Bs/Scn8amed-TgA4Bs
involves: C3H * C57BL/6J
MGI:103169  MP:0002083 premature death PMID: 7601440 
Scn8a8J Scn8a8J/Scn8a8J
involves: C3HeB/FeJ * C57BL/6J
MGI:103169  MP:0002083 premature death PMID: 19254928 
Scn8anur14 Scn8anur14/Scn8anur14
C57BL/6J-Scn8a
MGI:103169  MP:0002083 premature death PMID: 19261867 
Scn8amed Scn8amed/Scn8amed
PCT
MGI:103169  MP:0000748 progressive muscle weakness PMID: 4315332 
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0000876 Purkinje cell degeneration
Scn8amed-jo Scn8amed-jo/Scn8amed-jo
DBA/2WyDi-Scn8a
MGI:103169  MP:0000876 Purkinje cell degeneration
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0001954 respiratory distress PMID: 11532991 
Scn8admu Scn8admu/Scn8admu
involves: C3H * C57BL/6
MGI:103169  MP:0003852 skeletal muscle necrosis PMID: 11532991 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0000852 small cerebellum PMID: 19737145 
Scn8amed-jo2J Scn8amed-jo2J/Scn8amed-jo2J
B6(129S7)-Scn8a/J
MGI:103169  MP:0000745 tremors
Scn8am1Btlr Scn8am1Btlr/Scn8am1Btlr
C57BL/6J-Scn8a
MGI:103169  MP:0000745 tremors
Scn8a+|Scn8am1Btlr Scn8am1Btlr/Scn8a+
C57BL/6J-Scn8a
MGI:103169  MP:0000745 tremors
Scn8amed-J Scn8amed-J/Scn8amed-J
involves: STOCK Krt71
MGI:103169  MP:0000745 tremors PMID: 18791226 
Scn8amed-jo Scn8amed-jo/Scn8amed-jo
DBA/2WyDi-Scn8a
MGI:103169  MP:0000745 tremors
Scn8anur14 Scn8anur14/Scn8anur14
C57BL/6J-Scn8a
MGI:103169  MP:0000745 tremors PMID: 19261867 
Scn8amed-TgA4Bs|Scn8anur14 Scn8amed-TgA4Bs/Scn8anur14
involves: C3H * C57BL/6J
MGI:103169  MP:0000745 tremors PMID: 19261867 
Scn8aClth Scn8aClth/Scn8aClth
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0000745 tremors PMID: 19737145 
Scn8a+|Scn8aClth Scn8aClth/Scn8a+
involves: BALB/cAnN * C3H/HeH
MGI:103169  MP:0000745 tremors PMID: 19737145 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Cognitive impairment with or without cerebellar ataxia
OMIM: 614306
Disease:  Epileptic encephalopathy, early infantile, 13; EIEE13
Synonyms: Early infantile epileptic encephalopathy [Orphanet: ORPHA1934]
Infantile epileptic encephalopathy [Disease Ontology: DOID:2481]
Disease Ontology: DOID:2481
OMIM: 614558
Orphanet: ORPHA1934
Role: 
References:  29
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human N1768D 29
Gene Expression and Pathophysiology Click here for help
Knock-out mice and two single point mutations A1071T and V929F
Tissue or cell type:  Neurons
Pathophysiology:  Mutant mice demonstrated spike-wave discharges indicative of absence epilepsy
Species:  Mouse
Technique:  Gene knockout
References:  22
Single point mutation A1071T
Tissue or cell type:  Cerebellar Purkinje neurons
Pathophysiology:  Cerebellar ataxia
Species:  Mouse
Technique: 
References:  14
Intragenic deletion causing complete loss of expression
Tissue or cell type:  Neurons
Pathophysiology:  Early onset progressive paralysis of hind limbs, severe muscle atrophy, degeneration of cerebellar Purkinje cells and juvenile lethality
Species:  Mouse
Technique: 
References:  3
Knock-out mice and a single point mutation A1071T
Tissue or cell type:  Neurons
Pathophysiology:  Both types of mutant mice were more resistant to flurothyl- and kainic acid-induced seizures than wild-type mice
Species:  Mouse
Technique:  Gene knockout
References:  16
Intragenic deletion results in this mouse neurologic mutant.
Tissue or cell type:  Brain and spinal chord
Pathophysiology:  Motor Endplate Disease. Early onset progressive paralysis of hind limbs, severe muscle atrophy, degeneration of cerebellar Purkinje cells and juvenile lethality.
Species:  Mouse
Technique:  Intragenic deletion
References:  3
Biologically Significant Variants Click here for help
Type:  Missense mutation
Species:  Mouse
Description:  Missense mutation responsible for cerebellar ataxia in the mouse mutant jolting
Amino acid change:  A1071T
References:  14

References

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