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Search results 401 to 442 out of 442 for Scn8a

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Type Details Score
Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: C3HeB/FeJ * DBA/2J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a<+>
Background: C3Fe.Cg-Scn8a/J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: C57BL/6J-Scn8a
Zygosity: hm
Has Mutant Allele: true
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Protein
A0A0R4J262
Organism: Mus musculus/domesticus
Length: 186  
Fragment?: false
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Allele
Scn8a<m2Btlr> | MGI:5527541
 
Name: sodium channel, voltage-gated, type VIII, alpha; mutation 2, Bruce Beutler
Allele Type: Chemically induced (ENU)
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Protein
Q8K136
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
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Allele
Scn8a<med-J> | MGI:1856079
 
Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease Jackson
Allele Type: Spontaneous
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Publication
9192691 | -
First Author: Vega-Saenz de Miera EC
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: Molecular characterization of the sodium channel subunits expressed in mammalian cerebellar Purkinje cells.
Volume: 94
Issue: 13
Pages: 7059-64
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Protein Domain
IPR008054 | Na_channel_a8su
Type: Family
Description: Voltage-dependent sodium channels are transmembrane (TM) proteins responsible for the depolarising phase of the action potential in mostelectrically excitable cells []. They may exist in 3 states []: the resting state, where the channel is closed; the activated state, where the channel is open; and the inactivated state, where the channel is closed and refractory to opening. Several different structurally and functionally distinct isoforms are found in mammals, coded for by a multigene family, these being responsible for the different types of sodium ion currents found in excitable tissues.There are nine pore-forming alpha subunit of voltage-gated sodium channels consisting of four membrane-embedded homologous domains (I-IV), each consisting of six α-helical segments (S1-S6), three cytoplasmic loops connecting the domains, and a cytoplasmic C-terminal tail. The S6 segments of the four domains form the inner surface of the pore, while the S4 segments bear clusters of basic residues that constitute the channel's voltage sensors [, , ].Sodium channel protein type 8 subunit alpha (SCN8A) encodes the voltage-gated Na+ channel alpha 8 subunit and is strongly expressed in Purkinje cells. Sodium currents are known to generatethe rising phase and the prolonged plateau phase of cerebellar purkinje cell action potentials. Experiments in mice with mutated SCN8A subunits suggest its involvement in the persistent sodium current responsible for the prolonged plateau phase []. SCN8A is abundantly expressed throughout the CNS and in the spinal cord. Mutations in this protein have been related to a number of neurological disorders, including paralysis, ataxia and dystonia [, , , ].This entry represents a conserved region found towards the N terminus of the protein, which defines the alpha 8 subunits and distinguishes them from other members of the voltage-gated Na+ channel superfamily. For entries containing other members of this superfamily see , , .
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Allele
Scnm1<s> | MGI:2674104
 
Name: sodium channel modifier 1; susceptibility
Allele Type: Spontaneous
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Strain
MGI:5528356 | C57BL/6J-Scn8a<m2Btlr>
Attribute String: coisogenic, chemically induced mutation, mutant strain
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: C3H * C3HeB/Fe * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: C57BL/6J-Scn8a
Zygosity: hm
Has Mutant Allele: true
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Publication
29642012 | J:271309
First Author: Scala F
Year: 2018
Journal: Cell Rep
Title: Environmental Enrichment and Social Isolation Mediate Neuroplasticity of Medium Spiny Neurons through the GSK3 Pathway.
Volume: 23
Issue: 2
Pages: 555-567
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: C3H * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
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Strain
MGI:2161825 | B6C3Fe a/a-Krt71<Ca> Scn8a<med-J>/J
Attribute String: mutant strain
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Strain
MGI:2164555 | C57BL/6J-Scn8a<med-J>
Attribute String: mutant strain
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Genotype
Genotype
Symbol: Scn8a/Scn8a Scnm1/Scnm1
Background: involves: C57BL/6 * FVB * SJL * STOCK Krt71
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a Scnm1/Scnm1
Background: involves: C57BL/6 * STOCK Krt71
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: STOCK Krt71
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: C3H
Zygosity: hm
Has Mutant Allele: true
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Publication
28842554 | J:252750
First Author: Liu Y
Year: 2017
Journal: Nat Commun
Title: CDYL suppresses epileptogenesis in mice through repression of axonal Nav1.6 sodium channel expression.
Volume: 8
Issue: 1
Pages: 355
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Publication
21458573 | J:177958
First Author: Nutini M
Year: 2011
Journal: Mol Cell Neurosci
Title: Increased expression of the beta3 subunit of voltage-gated Na+ channels in the spinal cord of the SOD1G93A mouse.
Volume: 47
Issue: 2
Pages: 108-18
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Publication
23090952 | J:205098
First Author: Sun W
Year: 2013
Journal: J Physiol
Title: Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.
Volume: 591
Issue: 1
Pages: 241-55
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Publication
9562526 | J:47490
First Author: Meisler MH
Year: 1997
Journal: Ann Med
Title: Ion channel mutations in mouse models of inherited neurological disease.
Volume: 29
Issue: 6
Pages: 569-74
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Publication
22044765 | J:191394
First Author: O'Brien JE
Year: 2012
Journal: Mol Cell Neurosci
Title: Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A.
Volume: 49
Issue: 2
Pages: 120-6
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Publication
- | J:147336
     
First Author: Chang B
Year: 2007
Title: Mouse models of RP
Pages: 149-161
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Publication
29046322 | J:248369
First Author: Follwaczny P
Year: 2017
Journal: Dis Model Mech
Title: Pumilio2-deficient mice show a predisposition for epilepsy.
Volume: 10
Issue: 11
Pages: 1333-1342
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Protein
A0A0J9YTW4
Organism: Mus musculus/domesticus
Length: 804  
Fragment?: true
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Protein
A0A0J9YTW2
Organism: Mus musculus/domesticus
Length: 539  
Fragment?: true
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Protein
Q9WTU3
Organism: Mus musculus/domesticus
Length: 1978  
Fragment?: false
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Protein
F6U329
Organism: Mus musculus/domesticus
Length: 1978  
Fragment?: false
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Protein
A0A0R5RP22
Organism: Mus musculus/domesticus
Length: 1937  
Fragment?: false
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Protein
F7D6J5
Organism: Mus musculus/domesticus
Length: 1988  
Fragment?: false
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Protein
A0A0J9YUW5
Organism: Mus musculus/domesticus
Length: 1937  
Fragment?: false
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Protein
F7D6K4
Organism: Mus musculus/domesticus
Length: 1978  
Fragment?: false
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Publication
6209577 | -
First Author: Noda M
Year: 1984
Journal: Nature
Title: Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence.
Volume: 312
Issue: 5990
Pages: 121-7
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Publication
1317577 | -
First Author: George AL Jr
Year: 1992
Journal: Proc Natl Acad Sci U S A
Title: Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
Volume: 89
Issue: 11
Pages: 4893-7
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Publication
21947499 | -
First Author: Goldfarb M
Year: 2012
Journal: Cell Mol Life Sci
Title: Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block.
Volume: 69
Issue: 7
Pages: 1067-76
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Publication
27143702 | -
 
First Author: Kaplan DI
Year: 2016
Journal: Cold Spring Harb Perspect Med
Title: Role of Sodium Channels in Epilepsy.
Volume: 6
Issue: 6
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Publication
1323284 | -
First Author: Sato C
Year: 1992
Journal: Biochem Biophys Res Commun
Title: Proposed tertiary structure of the sodium channel.
Volume: 186
Issue: 2
Pages: 1158-67
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Publication
16332269 | J:156373
First Author: Chang B
Year: 2005
Journal: Vis Neurosci
Title: Mouse models of ocular diseases.
Volume: 22
Issue: 5
Pages: 587-93
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