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Search results 301 to 400 out of 442 for Scn8a

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Type Details Score
Publication
28742937 | J:247944
First Author: Maljevic S
Year: 2017
Journal: J Neurochem
Title: Models for discovery of targeted therapy in genetic epileptic encephalopathies.
Volume: 143
Issue: 1
Pages: 30-48
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Publication
17537961 | J:121969
First Author: Ogiwara I
Year: 2007
Journal: J Neurosci
Title: Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.
Volume: 27
Issue: 22
Pages: 5903-14
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Publication
15664175 | J:98459
First Author: Grieco TM
Year: 2005
Journal: Neuron
Title: Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current.
Volume: 45
Issue: 2
Pages: 233-44
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Publication
25010494 | J:228536
First Author: Frankel WN
Year: 2014
Journal: PLoS Genet
Title: Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy.
Volume: 10
Issue: 7
Pages: e1004454
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Publication
8703126 | J:35462
First Author: Jones JM
Year: 1996
Journal: Mamm Genome
Title: Close linkage of three neuronal genes on distal mouse chromosome 15.
Volume: 7
Issue: 9
Pages: 696-7
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Publication
35031483 | J:320523
 
First Author: Heighway J
Year: 2022
Journal: Neurobiol Dis
Title: Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.
Volume: 164
Pages: 105622
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Publication
17513486 | J:126105
First Author: Figueroa XF
Year: 2007
Journal: Am J Physiol Heart Circ Physiol
Title: Are voltage-dependent ion channels involved in the endothelial cell control of vasomotor tone?
Volume: 293
Issue: 3
Pages: H1371-83
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Publication
20057387 | J:250208
First Author: Hardisty-Hughes RE
Year: 2010
Journal: Nat Protoc
Title: A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment.
Volume: 5
Issue: 1
Pages: 177-90
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Publication
10734168 | J:66464
First Author: Hain HS
Year: 2000
Journal: J Pharmacol Exp Ther
Title: Cocaine-induced seizure thresholds: quantitative trait loci detection and mapping in two populations derived from the C57BL/6 and DBA/2 mouse strains.
Volume: 293
Issue: 1
Pages: 180-7
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Publication
23711479 | J:333610
First Author: Deuis JR
Year: 2013
Journal: Pain
Title: An animal model of oxaliplatin-induced cold allodynia reveals a crucial role for Nav1.6 in peripheral pain pathways.
Volume: 154
Issue: 9
Pages: 1749-1757
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Publication
16029194 | J:101093
First Author: Rush AM
Year: 2005
Journal: Eur J Neurosci
Title: Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons.
Volume: 22
Issue: 1
Pages: 39-49
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Publication
17724025 | J:126818
First Author: Zhang MM
Year: 2007
Journal: J Biol Chem
Title: Structure/function characterization of micro-conotoxin KIIIA, an analgesic, nearly irreversible blocker of mammalian neuronal sodium channels.
Volume: 282
Issue: 42
Pages: 30699-706
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Publication
22875929 | J:186617
First Author: Hao MM
Year: 2012
Journal: J Neurosci
Title: Early development of electrical excitability in the mouse enteric nervous system.
Volume: 32
Issue: 32
Pages: 10949-60
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Publication
23652591 | J:210871
First Author: Tsunozaki M
Year: 2013
Journal: J Physiol
Title: A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.
Volume: 591
Issue: 13
Pages: 3325-40
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Publication
15746173 | J:109097
First Author: Haufe V
Year: 2005
Journal: J Physiol
Title: Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.
Volume: 564
Issue: Pt 3
Pages: 683-96
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Publication
15272007 | J:93341
First Author: Malhotra JD
Year: 2004
Journal: J Biol Chem
Title: Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes.
Volume: 279
Issue: 39
Pages: 40748-54
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Publication
15123669 | J:333673
First Author: Fotia AB
Year: 2004
Journal: J Biol Chem
Title: Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2.
Volume: 279
Issue: 28
Pages: 28930-5
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Publication
19244508 | J:145949
First Author: Baloh RH
Year: 2009
Journal: J Neurosci
Title: Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
Volume: 29
Issue: 8
Pages: 2312-21
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Publication
30175250 | J:268565
   
First Author: Ogiwara I
Year: 2018
Journal: Commun Biol
Title: Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Volume: 1
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Publication
36402907 | J:331420
First Author: Pijuan I
Year: 2022
Journal: Sci Rep
Title: Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome.
Volume: 12
Issue: 1
Pages: 19912
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Publication
16723544 | J:109037
First Author: Kim HJ
Year: 2006
Journal: J Neurosci
Title: WAVE1 is required for oligodendrocyte morphogenesis and normal CNS myelination.
Volume: 26
Issue: 21
Pages: 5849-59
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Publication
17884088 | J:127606
First Author: Lopez-Santiago LF
Year: 2007
Journal: J Mol Cell Cardiol
Title: Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals.
Volume: 43
Issue: 5
Pages: 636-47
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Publication
15601927 | J:94807
First Author: Southwood C
Year: 2004
Journal: J Neurosci
Title: CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure.
Volume: 24
Issue: 50
Pages: 11215-25
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Publication
9226367 | J:41656
First Author: Brinkmeier ML
Year: 1997
Journal: Genomics
Title: Localization of somatostatin receptor genes on mouse chromosomes 2, 11, 12, 15, and 17: correlation with growth QTLs.
Volume: 43
Issue: 1
Pages: 9-14
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Publication
12955145 | J:85113
First Author: Kile BT
Year: 2003
Journal: Nature
Title: Functional genetic analysis of mouse chromosome 11.
Volume: 425
Issue: 6953
Pages: 81-6
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Publication
37321992 | J:340358
First Author: Oh H
Year: 2023
Journal: Nat Commun
Title: Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice.
Volume: 14
Issue: 1
Pages: 3547
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Publication
28283561 | J:240677
First Author: Crabtree GW
Year: 2017
Journal: J Neurosci
Title: Alteration of Neuronal Excitability and Short-Term Synaptic Plasticity in the Prefrontal Cortex of a Mouse Model of Mental Illness.
Volume: 37
Issue: 15
Pages: 4158-4180
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Publication
- | J:87349
     
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2004
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
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Publication
10591541 | J:68421
First Author: Jones BC
Year: 1999
Journal: Pharmacogenetics
Title: Quantitative-trait loci analysis of cocaine-related behaviours and neurochemistry.
Volume: 9
Issue: 5
Pages: 607-17
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Publication
- | J:82238
     
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2003
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
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Publication
- | J:47259
     
First Author: Goodwin N
Year: 1998
Journal: MGI Direct Data Submission
Title: An embryonic stem cell bank for producing deletion complexes in mice
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Publication
25979088 | J:242531
First Author: Bedogni F
Year: 2016
Journal: Cereb Cortex
Title: Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.
Volume: 26
Issue: 6
Pages: 2517-2529
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Publication
25917818 | J:222308
First Author: Fairfield H
Year: 2015
Journal: Genome Res
Title: Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Volume: 25
Issue: 7
Pages: 948-57
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Publication
- | J:169366
     
First Author: MouseBookTM
Year: 2005
Journal: Unpublished
Title: Information obtained from MouseBookTM, Medical Research Council Mammalian Genetics Unit, Harwell, UK.
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Publication
16985003 | J:119550
First Author: Harrell MD
Year: 2007
Journal: Physiol Genomics
Title: Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.
Volume: 28
Issue: 3
Pages: 273-83
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Publication
19906978 | J:154739
First Author: Quina LA
Year: 2009
Journal: J Neurosci
Title: Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development.
Volume: 29
Issue: 45
Pages: 14309-22
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Publication
- | J:94338
     
First Author: NIH Mouse Knockout Inventory
Year: 2004
Journal: MGI Direct Data Submission
Title: Information obtained from the NIH Mouse Knockout Inventory
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:346132
       
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
34321999 | J:313619
 
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Allele
Scn8a<tm1.1Aesc> | MGI:5749693
 
Name: sodium channel, voltage-gated, type VIII, alpha; targeted mutation 1.1, Andrew Escayg
Allele Type: Targeted
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HT Experiment
GSE235193 | Long-term downregulation of SCN8A in mouse models of developmental and epileptic encephalopathy
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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HT Experiment
GSE254640 | Long-term downregulation of SCN8A in mouse models of developmental and epileptic encephalopathy II
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Publication
26677014 | -
First Author: Gardella E
Year: 2016
Journal: Ann Neurol
Title: Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Volume: 79
Issue: 3
Pages: 428-36
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Publication
25725044 | -
First Author: Blanchard MG
Year: 2015
Journal: J Med Genet
Title: De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Volume: 52
Issue: 5
Pages: 330-7
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Publication
35153788 | J:321572
 
First Author: Shapiro L
Year: 2022
Journal: Front Pharmacol
Title: Cannabidiol Increases Seizure Resistance and Improves Behavior in an Scn8a Mouse Model.
Volume: 13
Pages: 815950
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DO Term
DOID:0080445 | developmental and epileptic encephalopathy 13
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DO Term
DOID:0081118 | benign familial infantile seizures 5
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Publication
17656373 | J:129888
First Author: Howell VM
Year: 2007
Journal: Hum Mol Genet
Title: Evidence for a direct role of the disease modifier SCNM1 in splicing.
Volume: 16
Issue: 20
Pages: 2506-16
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Allele
Scn8a<med> | MGI:1856078
Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease
Allele Type: Spontaneous
Attribute String: Null/knockout
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Allele
Scn8a<med-TgA4Bs> | MGI:1856414
 
Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease (TgA4Bs)
Allele Type: Transgenic
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Allele
rd13 | MGI:3045621
 
Name: retinal degeneration 13
Allele Type: Chemically induced (ENU)
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Protein Domain
IPR033570 | SCNM1
Type: Family
Description: SCNM1 (sodium channel modifier 1) is an accessory component of the U1 splicesome protein complex. It interacts with the spliceosomal Sm and U1-70K proteins and has a direct role in splicing []. It was originally identified as a disease modifier gene required for efficient splicing of a mutant splice donor site in the sodium channel Scn8a [].
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Genotype
Genotype
Symbol: Scn8a/Scn8a Scnm1/Scnm1
Background: involves: C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a Scnm1/Scnm1
Background: involves: C57BL/6J * STOCK Krt71
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a Scnm1/Scnm1<+>
Background: involves: C3HeB/FeJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Protein Domain
IPR031625 | SCNM1_acidic
Type: Domain
Description: This entry represents the C-terminal acidic region of eukaryotic sodium channel modifier protein 1 (SCNM1). Deletion of this region affects the splicing and normal activity of the sodium channel Nav1.6 from gene Scn8a []. SCNM1 belongs to the U1C subfamily of RNA binding proteins that is commonly found in RNA-processing proteins, suggesting that SCNM1 is involved in splicing activities. SCNM1 and LUC7L2 associate with the mammalian spliceosomal subunit U1 snRNP [].
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Strain
MGI:2165164 | C3Fe.Cg-Scn8a<med>/J
Attribute String: mutant strain, spontaneous mutation, congenic
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Strain
MGI:3818327 | B6.Cg-Scn8a<med-TgA4Bs>
Attribute String: transgenic, deletion, congenic
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Strain
MGI:5650676 | (C57BL/6J-Scn8a<med-TgA4Bs> x CAST/Ei)F1
Attribute String: F1 hybrid, mutant stock
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Allele
Scn8a<m3Btlr> | MGI:5607160
Name: sodium channel, voltage-gated, type VIII, alpha; mutation 3, Bruce Beutler
Allele Type: Chemically induced (ENU)
Attribute String: Not Specified
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Strain
MGI:5607173 | C57BL/6J-Scn8a<m3Btlr>
Attribute String: coisogenic, chemically induced mutation, mutant strain
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Genotype
Genotype
Symbol: rd13/rd13
Background: involves: C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: PCT
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: involves: C3H * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn8a/Scn8a
Background: B6.Cg-Scn8a
Zygosity: hm
Has Mutant Allele: true
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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