Type |
Details |
Score |
Publication |
First Author: |
Valkova C |
Year: |
2017 |
Journal: |
Sci Rep |
Title: |
The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels. |
Volume: |
7 |
|
Pages: |
41248 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rubinstein M |
Year: |
2015 |
Journal: |
Brain |
Title: |
Dissecting the phenotypes of Dravet syndrome by gene deletion. |
Volume: |
138 |
Issue: |
Pt 8 |
Pages: |
2219-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim DY |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Reduced sodium channel Na(v)1.1 levels in BACE1-null mice. |
Volume: |
286 |
Issue: |
10 |
Pages: |
8106-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Albrieux M |
Year: |
2004 |
Journal: |
J Neurosci |
Title: |
Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex. |
Volume: |
24 |
Issue: |
7 |
Pages: |
1719-25 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kalume F |
Year: |
2007 |
Journal: |
J Neurosci |
Title: |
Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. |
Volume: |
27 |
Issue: |
41 |
Pages: |
11065-74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tai C |
Year: |
2014 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome. |
Volume: |
111 |
Issue: |
30 |
Pages: |
E3139-48 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shao E |
Year: |
2022 |
Journal: |
Sci Transl Med |
Title: |
TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model. |
Volume: |
14 |
Issue: |
642 |
Pages: |
eabm5527 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hodgdon KE |
Year: |
2012 |
Journal: |
Neuroscience |
Title: |
Dorsal root ganglia isolated from Nf1+/- mice exhibit increased levels of mRNA expression of voltage-dependent sodium channels. |
Volume: |
206 |
|
Pages: |
237-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Espino CM |
Year: |
2022 |
Journal: |
Elife |
Title: |
NaV1.1 is essential for proprioceptive signaling and motor behaviors. |
Volume: |
11 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hanson JE |
Year: |
2020 |
Journal: |
Cell Rep |
Title: |
GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models. |
Volume: |
30 |
Issue: |
2 |
Pages: |
381-396.e4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Somarowthu A |
Year: |
2021 |
Journal: |
Cell Calcium |
Title: |
Two-photon calcium imaging of seizures in awake, head-fixed mice. |
Volume: |
96 |
|
Pages: |
102380 |
|
•
•
•
•
•
|
Publication |
First Author: |
Crabbe JC |
Year: |
1994 |
Journal: |
Alcohol Alcohol Suppl |
Title: |
Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. |
Volume: |
2 |
|
Pages: |
67-71 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Akagi K |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition. |
Volume: |
18 |
Issue: |
6 |
Pages: |
869-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bice PJ |
Year: |
2006 |
Journal: |
Behav Genet |
Title: |
Identification of QTLs influencing alcohol preference in the High Alcohol Preferring (HAP) and Low Alcohol Preferring (LAP) mouse lines. |
Volume: |
36 |
Issue: |
2 |
Pages: |
248-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tai C |
Year: |
2020 |
Journal: |
Neuron |
Title: |
Tau Reduction Prevents Key Features of Autism in Mouse Models. |
Volume: |
106 |
Issue: |
3 |
Pages: |
421-437.e11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Malo D |
Year: |
1991 |
Journal: |
Genomics |
Title: |
Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2. |
Volume: |
10 |
Issue: |
3 |
Pages: |
666-72 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Crabbe JC |
Year: |
1994 |
Journal: |
J Pharmacol Exp Ther |
Title: |
Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice. |
Volume: |
269 |
Issue: |
1 |
Pages: |
184-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tarantino LM |
Year: |
1998 |
Journal: |
Alcohol Clin Exp Res |
Title: |
Confirmation of quantitative trait loci for alcohol preference in mice. |
Volume: |
22 |
Issue: |
5 |
Pages: |
1099-105 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ogiwara I |
Year: |
2018 |
Journal: |
Commun Biol |
Title: |
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice. |
Volume: |
1 |
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
de la Torre-Ubieta L |
Year: |
2016 |
Journal: |
Nat Med |
Title: |
Advancing the understanding of autism disease mechanisms through genetics. |
Volume: |
22 |
Issue: |
4 |
Pages: |
345-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from The Jackson Laboratory, Bar Harbor, ME |
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|
|
|
•
•
•
•
•
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Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Centre for Modeling Human Disease |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the NorCOMM project by the Centre for Modeling Human Disease (Cmhd), Institute of Biomaterials & Biomedical Engineering, University of Toronto |
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•
•
•
•
•
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Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
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Publication |
First Author: |
Tamplin OJ |
Year: |
2008 |
Journal: |
BMC Genomics |
Title: |
Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. |
Volume: |
9 |
|
Pages: |
511 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miller JA |
Year: |
2013 |
Journal: |
Development |
Title: |
Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates. |
Volume: |
140 |
Issue: |
22 |
Pages: |
4633-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
The RIKEN BioResource Center |
Year: |
2006 |
Journal: |
Unpublished |
Title: |
Information obtained from The RIKEN BioResource Center |
|
|
|
|
•
•
•
•
•
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Publication |
First Author: |
MGI and IMPC |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Thompson CL |
Year: |
2014 |
Journal: |
Neuron |
Title: |
A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain. |
Volume: |
83 |
Issue: |
2 |
Pages: |
309-323 |
|
•
•
•
•
•
|
Publication |
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) |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
|
Title: |
Rat to Mouse ISO GO annotation transfer |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
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•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2000 |
|
Title: |
Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
|
Title: |
Human to Mouse ISO GO annotation transfer |
|
|
|
|
•
•
•
•
•
|
Publication |
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). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Gaudet P |
Year: |
2011 |
Journal: |
Brief Bioinform |
Title: |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. |
Volume: |
12 |
Issue: |
5 |
Pages: |
449-62 |
|
•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
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|
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•
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•
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•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
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•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
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•
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•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
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•
•
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Publication |
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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•
•
•
•
•
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Publication |
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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•
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•
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Publication |
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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•
•
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•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
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•
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Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Alexander S Nord |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified isoform(s), Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 2, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 3, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
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•
•
•
•
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Publication |
First Author: |
Abou-Khalil B |
Year: |
2001 |
Journal: |
Neurology |
Title: |
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. |
Volume: |
57 |
Issue: |
12 |
Pages: |
2265-72 |
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•
•
•
•
|
DO Term |
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•
•
•
|
DO Term |
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•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Kazuhiro Yamakawa |
Allele Type: |
Transgenic |
Attribute String: |
Reporter |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, transgenic, coisogenic |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Dravet Syndrome Foundation |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Kazuhiro Yamakawa |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; targeted mutation 2.1, Kazuhiro Yamakawa |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; targeted mutation 1, Jennifer Kearney |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion RH9, Andrew Escayg |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, endonuclease-mediated mutation, coisogenic |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; targeted mutation 2.1, William A Catterall |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
sodium channel, voltage-gated, type I, alpha; targeted mutation 1, William A Catterall |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Scn1a/Scn1a<+> |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Scn1a/Scn1a<+> Tg(I12b-cre)1Jlr/? |
Background: |
involves: C57BL/6J * CD-1 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Scn1a/Scn1a<+> |
Background: |
(C57BL/6J x 129S6/SvEvTac-Scn1a)F1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Scn1a/Scn1a<+> Tg(Pvalb-cre)1Tama/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 * DBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Scn1a/Scn1a Tg(Pvalb-cre)1Tama/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 * DBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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DO Term |
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Genotype |
Symbol: |
Scn1a/Scn1a<+> |
Background: |
involves: 129P2/OlaHsd * C3HeB/FeJ |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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DO Term |
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Genotype |
Symbol: |
Tg(Scn1a*)RH9Aesc/? |
Background: |
involves: FVB/NJ |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Scn1a/Scn1a<+> |
Background: |
B6.129-Scn1a |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Scn1a/Scn1a<+> Tg(I12b-cre)1Jlr/? |
Background: |
involves: 129X1/SvJ * C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Scn1a/Scn1a<+> Tg(Scn1a*)RH9Aesc/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Scn1a/Scn1a Tg(Scn1a*)RH9Aesc/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Meisler MH |
Year: |
2005 |
Journal: |
J Clin Invest |
Title: |
Sodium channel mutations in epilepsy and other neurological disorders. |
Volume: |
115 |
Issue: |
8 |
Pages: |
2010-7 |
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Protein Domain |
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 [, , ].The SCN1A gene encodes the NaB1 channel and is particularly expressed inthe brain, but is also found in a variety of other tissues, ranging from theretina to the olfactory bulb. Epilepsy, a disorder of neuronalhyperexcitability, has been associated with altered kinetics of SCN1A, aswell as delayed inactivation of SCN2A [].This entry represents the alpha 1 subunits of the voltage-gated Na+ channel superfamily. For entries containing other members of this superfamily see , , . |
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Publication |
First Author: |
Hui JB |
Year: |
2022 |
Journal: |
eNeuro |
Title: |
NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis. |
Volume: |
9 |
Issue: |
2 |
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Publication |
First Author: |
Hawkins NA |
Year: |
2012 |
Journal: |
Genes Brain Behav |
Title: |
Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq. |
Volume: |
11 |
Issue: |
4 |
Pages: |
452-60 |
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Publication |
First Author: |
Warner TA |
Year: |
2017 |
Journal: |
Epilepsy Res |
Title: |
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice. |
Volume: |
134 |
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Pages: |
1-8 |
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Publication |
First Author: |
Meisler MH |
Year: |
2001 |
Journal: |
Annu Rev Genet |
Title: |
Identification of epilepsy genes in human and mouse. |
Volume: |
35 |
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Pages: |
567-88 |
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Publication |
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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Publication |
First Author: |
Singh NA |
Year: |
2009 |
Journal: |
PLoS Genet |
Title: |
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. |
Volume: |
5 |
Issue: |
9 |
Pages: |
e1000649 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
500
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Fragment?: |
true |
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