MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: seizures
Accession: MP:0002064
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Definition: sudden and often acute manifestation of epileptic attack, sometimes convulsive
Synonyms: exact_synonym: Seizure
broad_synonym: epilepsy; neurological/behavioral: seizures/epilepsy; neurological/behavioural: seizures/epilepsy; seizures/epilepsy
alt_id: MP:0000946; MP:0001493
xref: EFO:0000474 ; HP:0001250; MGI:2173569
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Camk2d
calcium/calmodulin-dependent protein kinase II delta
IAGP
DNA:SNP:intron:g.24024428G>T
RGD
PMID:20638246
RGD:6907065
NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:217,698,551...217,960,276
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Plp1
proteolipid protein 1
IAGP
RGD
PMID:2479544
RGD:1358781
NCBI chr X:104,933,921...104,993,317
Ensembl chr X:104,975,780...104,993,314
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Plp1md
proteolipid protein 1; Myelin-deficient
IAGP
RGD
PMID:2479544
RGD:1358781
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Eml1
EMAP like 1
IAGP
RGD
PMID:32179177
RGD:407985868
NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:133,048,427...133,221,642
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Eml1tish
EMAP like 1, tish mutant
IAGP
RGD
PMID:32179177
RGD:407985868
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
compared to wild type controls
RGD
PMID:38107412
RGD:401976423
NCBI chr X:152,284,857...152,322,686
Ensembl chr X:152,284,841...152,322,675
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Fmr1em2Mcwi
FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type controls
RGD
PMID:38107412
RGD:401976423
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Gad1
glutamate decarboxylase 1
onset
IMP
RGD
PMID:37830095
RGD:405855846
NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
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Gad1em15Yyan
glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan
onset
IMP
RGD
PMID:37830095
RGD:405855846
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Lgi1
leucine-rich, glioma inactivated 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095
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Lgi1m1Kyo
leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo
IMP
RGD
PMID:30813600
RGD:14995940
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Lig1
DNA ligase 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:83,243,043...83,281,707
Ensembl chr 1:83,219,545...83,281,708
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Wwox
WW domain-containing oxidoreductase
IAGP
DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
RGD
PMID:19500159
RGD:150429979
NCBI chr19:59,338,402...60,269,323
Ensembl chr19:59,341,233...60,269,441
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:19500159
RGD:150429979
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
induces
IMP
RGD
PMID:30408474
RGD:26923909
NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
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Hcn1em1Kyo
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo
induces
IMP
RGD
PMID:30408474
RGD:26923909
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Myo5a
myosin VA
IAGP
DNA:rearrangement, deletion:exon:141-bp deletion position 1442-1582
RGD
PMID:17185506
RGD:1600835
NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265
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Eml1
EMAP like 1
IAGP
RGD
PMID:9236234
RGD:597538480
NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:133,048,427...133,221,642
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Eml1tish
EMAP like 1, tish mutant
IAGP
RGD
PMID:9236234
RGD:597538480
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Kcna1
potassium voltage-gated channel subfamily A member 1
IAGP
RGD
PMID:22206926
RGD:10047237
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
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Kcna1Adms
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures
IAGP
RGD
PMID:22206926
RGD:10047237
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
IAGP
RGD
PMID:17196942
RGD:1598976
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
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Cacna1agry
calcium voltage-gated channel subunit alpha1 A; groggy mutant
IAGP
RGD
PMID:17196942
RGD:1598976
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
treatment
IMP
compared to untreated
RGD
PMID:30408474
RGD:26923909
NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
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Hcn1em1Kyo
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo
treatment
IMP
compared to untreated
RGD
PMID:30408474
RGD:26923909
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Cntnap2
contactin associated protein 2
IMP
RGD
PMID:28364455
RGD:12880397
NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:75,109,858...77,366,258
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Cntnap2em1Sage
contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:28364455
RGD:12880397
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Kcna1
potassium voltage-gated channel subfamily A member 1
IAGP
RGD
PMID:22206926
RGD:10047237
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
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Kcna1Adms
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures
IAGP
RGD
PMID:22206926
RGD:10047237
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
IAGP
RGD
PMID:20638246
RGD:6907065
NCBI chr13:69,125,048...69,613,795
Ensembl chr13:69,132,305...69,612,983
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Sv2a
synaptic vesicle glycoprotein 2a
IMP
DNA:mutation:cds:p.L174Q(rat)
RGD
PMID:27265781
RGD:12792961
NCBI chr 2:186,430,363...186,446,161
Ensembl chr 2:186,430,345...186,448,065
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Sv2am1Kyo
synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo,
IMP
RGD
PMID:27265781
RGD:12792961
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
onset
IMP
RGD
PMID:30408474
RGD:26923909
NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
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Hcn1em1Kyo
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo
onset
IMP
RGD
PMID:30408474
RGD:26923909
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Lgi1
leucine-rich, glioma inactivated 1
IMP
DNA:missense mutation:cds:p.L385R (c.1154T>G)
RGD
PMID:22589250
RGD:12792971
NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095
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Lgi1m1Kyo
leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo
IMP
DNA:missense mutation:cds:p.L385R (c.1154T>G)
RGD
PMID:22589250
RGD:12792971
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Scn1a
sodium voltage-gated channel alpha subunit 1
IMP
RGD
PMID:20410126
RGD:12792282
NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791
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Scn1am1Kyo
sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo
IMP
RGD
PMID:20410126
RGD:12792282
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Scn1am2Kyo
sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo
IMP
RGD
PMID:20410126
RGD:12792282
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Sv2a
synaptic vesicle glycoprotein 2a
IMP
DNA:mutation:cds:p.L174Q(rat)
RGD
PMID:27265781
RGD:12792961
NCBI chr 2:186,430,363...186,446,161
Ensembl chr 2:186,430,345...186,448,065
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Sv2am1Kyo
synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo,
IMP
RGD
PMID:27265781
RGD:12792961
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