ENSMUSG00000064329


Mus musculus

Features
Gene ID: ENSMUSG00000064329
  
Biological name :Scn1a
  
Synonyms : A2APX8 / Scn1a / Sodium channel protein type 1 subunit alpha
  
Possible biological names infered from orthology : P35498 / sodium voltage-gated channel alpha subunit 1
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C1.3
Gene start: 66270778
Gene end: 66440840
  
Corresponding Affymetrix probe sets: 10483299 (MoGene1.0st)   1441728_at (Mouse Genome 430 2.0 Array)   1450120_at (Mouse Genome 430 2.0 Array)   1450121_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000107985
Ensembl peptide - ENSMUSP00000144633
Ensembl peptide - ENSMUSP00000144214
Ensembl peptide - ENSMUSP00000116881
Ensembl peptide - ENSMUSP00000107990
Ensembl peptide - ENSMUSP00000076697
Ensembl peptide - ENSMUSP00000092558
NCBI entrez gene - 20265     See in Manteia.
MGI - MGI:98246
RefSeq - XM_006499028
RefSeq - NM_001313997
RefSeq - NM_018733
RefSeq - XM_006499027
RefSeq Peptide - NP_061203
RefSeq Peptide - NP_001300926
swissprot - A2APX9
swissprot - A0A0J9YVF2
swissprot - A0A0J9YUJ5
swissprot - A2APX8
Ensembl - ENSMUSG00000064329
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 scn1aENSDARG00000086819Danio rerio
 scn1labENSDARG00000062744Danio rerio
 SCN1AENSGALG00000010943Gallus gallus
 SCN1AENSG00000144285Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Scn2a / sodium channel, voltage-gated, type II, alpha / Q99250* / sodium voltage-gated channel alpha subunit 2*ENSMUSG0000007531887
Scn3a / sodium channel, voltage-gated, type III, alpha / Q9NY46* / sodium voltage-gated channel alpha subunit 3*ENSMUSG0000005718282
Scn9a / Q62205 / Sodium channel protein type 9 subunit alpha / Q15858* / sodium voltage-gated channel alpha subunit 9*ENSMUSG0000007531677
Scn8a / sodium channel, voltage-gated, type VIII, alpha / Q9UQD0* / sodium voltage-gated channel alpha subunit 8*ENSMUSG0000002303376
Scn4a / sodium channel, voltage-gated, type IV, alpha / P35499* / sodium voltage-gated channel alpha subunit 4*ENSMUSG0000000102764
Scn5a / Q9JJV9 / Sodium channel protein type 5 subunit alpha / Q14524* / sodium voltage-gated channel alpha subunit 5*ENSMUSG0000003251163
Q6QIY3 / Scn10a / sodium channel, voltage-gated, type X, alpha / Q9Y5Y9* / sodium voltage-gated channel alpha subunit 10*ENSMUSG0000003453356
Q9R053 / Scn11a / Sodium channel protein type 11 subunit alpha / Q9UI33* / sodium voltage-gated channel alpha subunit 11*ENSMUSG0000003411545
Scn7a / sodium voltage-gated channel alpha subunit 7 / Q01118*ENSMUSG0000003481042
Cacna1h / voltage-dependent T-type calcium channel subunit alpha-1H isoform 2 / O95180* / calcium voltage-gated channel subunit alpha1 H*ENSMUSG0000002411225
Cacna1g / calcium channel, voltage-dependent, T type, alpha 1G subunit / O43497* / calcium voltage-gated channel subunit alpha1 G*ENSMUSG0000002086624
Cacna1i / calcium channel, voltage-dependent, alpha 1I subunit / Q9P0X4* / calcium voltage-gated channel subunit alpha1 I*ENSMUSG0000002241623


Protein motifs (from Interpro)
Interpro ID Name
 IPR001696  Voltage gated sodium channel, alpha subunit
 IPR005821  Ion transport domain
 IPR008051  Voltage gated sodium channel, alpha-1 subunit
 IPR010526  Sodium ion transport-associated
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR024583  Voltage-gated Na+ ion channel, cytoplasmic domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0019227 neuronal action potential propagation IMP
 biological_processGO:0019228 neuronal action potential IMP
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0042391 regulation of membrane potential IMP
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050966 detection of mechanical stimulus involved in sensory perception of pain IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction ISO
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0001518 voltage-gated sodium channel complex IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0014704 intercalated disc IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016604 nuclear body ISO
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030315 T-tubule IDA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0033268 node of Ranvier IDA
 cellular_componentGO:0034706 sodium channel complex IPI
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043194 axon initial segment IDA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IDA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+,Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Kcnq2Nmf134/Kcnq2+,Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm2.2Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Scn1atm2.2Kzy/Scn1atm2.2Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1.1(cre)Ito/Emx1+,Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Pvalb-cre)1Tama/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA

Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Pvalb-cre)1Tama/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Swl/Scn1atm1.1Swl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm2.2Kzy/Scn1atm2.2Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm2.2Kzy/Scn1atm2.2Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Pvalb-cre)1Tama/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Swl/Scn1atm1.1Swl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ryr2tm1Krbr/Ryr2tm1Krbr,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001957 apnea "absence of breathing; sometimes episodic" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17384]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

Allelic Composition: Scn1atm1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1Kea/Scn1a+
Genetic Background: (C57BL/6J x 129S6/SvEvTac-Scn1atm1Kea)F1

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Msh3tm1Htr/Msh3tm1Htr,Msh6tm1Htr/Msh6tm1Htr
Genetic Background: involves: 129P2/OlaHsd * FVB/N

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Pvalb-cre)1Tama/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: 129-Scn1atm1Wac

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Scn1atm1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1Wac/Scn1atm1Wac,Tg(Scn1a*)RH9Aesc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1Wac/Scn1a+,Tg(Scn1a*)RH9Aesc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm2.2Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1.1(cre)Ito/Emx1+,Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Pvalb-cre)1Tama/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA

Allelic Composition: Scn1atm1Kea/Scn1a+
Genetic Background: (C57BL/6J x 129S6/SvEvTac-Scn1atm1Kea)F1

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ

Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rorcm1Btlr/Rorcm1Btlr
Genetic Background: C57BL/6J-Rorcm1Btlr

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002194 maximal tonic hindlimb extension seizures "seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, wf:Wayne Frankel , TJL staff]
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Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

 MP:0002578 impaired ability to fire action potentials "anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs" [J:51377, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

 MP:0002690 akinesia "absence of movement or loss of the ability to move such as temporary or prolonged paralysis or "freezing in place"" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:82238]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0002980 abnormal postural reflex "failure to respond with the normal extension of legs to maintain balance when the cage is tilted" [smb:Susan M. Bello , Mouse Genome Informatics Curator, J:88306]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0003233 prolonged QT interval "increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time" [J:93197, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0003492 abnormal involuntary movement "anomalies in movements that occur independent of planning (eg. reflexive behavior)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003635 abnormal synaptic transmission "defect in the communication from a neuron to a target across a synapse " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0003996 clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+,Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Kcnq2Nmf134/Kcnq2+,Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

Allelic Composition: Scn1atm1.1Swl/Scn1atm1.1Swl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0004008 abnormal GABA receptor currents "change in the measured amplitude or duration of response to stimulation of GABA receptors" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

Allelic Composition: Scn1atm2.1Kzy/Scn1a+,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: B6.129-Scn1atm1Wac

 MP:0005424 jerky movement "continuous, abrupt, faltering motions of the whole body or a portion of the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006110 ventricular fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
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Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1.1(cre)Ito/Emx1+,Scn1atm2.1Kzy/Scn1atm2.1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq2Nmf134/Kcnq2+,Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc,Scn8amed-jo/Scn8a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

 MP:0008840 abnormal spike wave discharge "anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy" [PMID:16725200]
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Allelic Composition: Scn1atm1Wac/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1Wac/Scn1a+,Scn8amed-jo/Scn8a+
Genetic Background: involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

 MP:0009358 environmentally induced seizures "relatively mild but sudden stimulation due to changes in ambient habitat including lighting, sounds, touching, and/ or moving cage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0009732 ventricular premature beat "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0009938 abnormal hippocampus granule cell morphology "any structural anomaly of the small neurons of the hippocampal granule cell layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Swl/Scn1a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0009939 abnormal hippocampus neuron morphology 
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Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010504 abnormal RR interval "anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0010508 abnormal heart electrocardiography waveform feature "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:20410536]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0010636 bundle branch block "intraventricular block resulting from an interruption or partial or complete block of conduction in one of the two atrioventricular bundle branches; a prolonged QRS complex seen on an ECG indicates defects in bundle branch conduction; blocks in each branch result in a distinct QRS ECG waveform morphology" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Scn1atm1.1Kzy/Scn1a+
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1Kzy/Scn1atm1Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1Wac/Scn1atm1Wac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

Allelic Composition: Scn1atm1Wac/Scn1atm1Wac,Scn8amed-jo/Scn8a+
Genetic Background: involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm1.1Aesc/Scn1a+,Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Scn1atm2.2Kzy/Scn1atm2.2Kzy
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Scn1atm2.1Kzy/Scn1atm2.1Kzy,Tg(Slc32a1-cre)65Kzy/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Scn1atm1.1Swl/Scn1atm1.1Swl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JNarl

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Kcnq2Nmf134/Kcnq2+,Scn1atm1.1Aesc/Scn1a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc,Scn8amed-jo/Scn8a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

Allelic Composition: Scn1atm2.1Wac/Scn1a+,Tg(I12b-cre)1Jlr/0
Genetic Background: involves: C57BL/6J * CD-1

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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