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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:abnormal nervous system physiology
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Accession:MP:0003633 term browser browse the term
Definition:any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions
Synonyms:narrow_synonym: abnormal brain function;   abnormal central nervous system physiology;   abnormal peripheral nervous system physiology;   central nervous system functional abnormalities;   central nervous system: other functional anomalies;   peripheral nervous system: functional anomalies
 alt_id: MP:0000945;   MP:0001887;   MP:0001910;   MP:0001918;   MP:0002155;   MP:0002158
 xref: MGI:2173615;   MGI:2173618



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abnormal action potential term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 IMP RGD PMID:27313794 RGD:11568037 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:27313794 RGD:11568037
abnormal afterhyperpolarization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit IMP RGD PMID:26873552 RGD:11573213 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Depdc5em1Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo IMP RGD PMID:26873552 RGD:11573213
G Depdc5em2Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo IMP RGD PMID:26873552 RGD:11573213
G Scn9a sodium voltage-gated channel alpha subunit 9 induces IMP RGD PMID:31550995 RGD:150429745 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Scn9a*tm1Amgn sodium voltage-gated channel alpha subunit 9;ZFN induced target mutant1, Amgn induces IMP RGD PMID:31550995 RGD:150429745
abnormal blood-brain barrier function term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IMP RGD PMID:22049154 RGD:8657330 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcb1aem2Sage ATP binding cassette subfamily B member 1A; ZFN induced mutant 2, Sage IMP RGD PMID:22049154 RGD:8657330
G Abcc2 ATP binding cassette subfamily C member 2 IAGP RGD PMID:12663688 RGD:704399 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12663088 RGD:704425 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
abnormal blood-cerebrospinal fluid barrier function term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
abnormal brain wave pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlgn3 neuroligin 3 IMP RGD PMID:28958035 RGD:126790492 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:28958035 RGD:126790492
abnormal cerebrospinal fluid flow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
abnormal excitatory postsynaptic potential term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta IMP RGD PMID:33479380 RGD:150519900 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
JBrowse link
G Prkar1bem2Tua protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua IMP RGD PMID:33479380 RGD:150519900
abnormal glymphatic system physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 IMP RGD PMID:33574749 RGD:127284879 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Aqp4em1Hrt aquaporin 4; TALEN induced mutant 1, Hrt IMP RGD PMID:33574749 RGD:127284879
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
abnormal microglial cell activation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP RGD PMID:28007901 RGD:12879399 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
abnormal nerve fiber response term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit IMP RGD PMID:26873552 RGD:11573213 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Depdc5em1Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo IMP RGD PMID:26873552 RGD:11573213
G Depdc5em2Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo IMP RGD PMID:26873552 RGD:11573213
abnormal neurotransmitter secretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm2 glutamate metabotropic receptor 2 IMP knock-out compared to wild-type rats
knockout compared to wild type
RGD PMID:30283001 PMID:28700935 RGD:38501063, RGD:38501064 NCBI chr 8:107,280,099...107,293,159
Ensembl chr 8:107,280,099...107,293,146
JBrowse link
G Grm2em1 glutamate metabotropic receptor 2; endonuclease induced mutant 1 IMP KO compared to wild-type rats RGD PMID:28700935 PMID:30283001 RGD:38501064, RGD:38501063
abnormal prepulse inhibition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 IMP worsens with age RGD PMID:30126973 RGD:126790476 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP worsens with age RGD PMID:30126973 RGD:126790476
abnormal synaptic vesicle recycling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP RGD PMID:31074746 RGD:41408338
audiogenic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413
JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 RGD PMID:19500159 RGD:150429979 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:19500159 RGD:150429979
brain inflammation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaset2 ribonuclease T2 IMP RGD PMID:29752287 RGD:13781889 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
JBrowse link
G Rnaset2em1Sage ribonuclease T2; CRISPR/Cas9 induced mutant 1, Sage IMP RGD PMID:29752287 RGD:13781889
clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 induces IMP RGD PMID:30408474 RGD:26923909 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo induces IMP RGD PMID:30408474 RGD:26923909
G Myo5a myosin VA IAGP DNA:rearrangement, deletion:exon:141-bp deletion position 1442-1582 RGD PMID:17185506 RGD:1600835 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
convulsive seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
decreased nerve fiber response intensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 induces IMP RGD PMID:30408474 RGD:26923909 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo induces IMP RGD PMID:30408474 RGD:26923909
decreased neuron apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IMP RGD PMID:18683040 RGD:4892578 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
decreased prepulse inhibition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlgn3 neuroligin 3 IMP RGD PMID:24773431 PMID:28958035 RGD:9831152, RGD:126790492 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24773431 PMID:28958035 RGD:9831152, RGD:126790492
G Pax6 paired box 6 IAGP DNA:frameshift mutation:cds: RGD PMID:21203536 RGD:8552339 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
decreased spike-wave discharge type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A IAGP RGD PMID:17196942 RGD:1598976 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 treatment IMP compared to untreated RGD PMID:30408474 RGD:26923909 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo treatment IMP compared to untreated RGD PMID:30408474 RGD:26923909
decreased synaptic depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L IMP RGD PMID:31678405 RGD:150429833 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
JBrowse link
G Gnalem1Hpng G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng IMP compared to wildtype controls RGD PMID:31678405 RGD:150429833
demyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk6 kallikrein related-peptidase 6 IAGP RGD PMID:12023317 RGD:1358596 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
JBrowse link
G Tubb4a tubulin, beta 4A class IVa IAGP DNA:missense mutation:cds:p.Ala302Thr (rat) RGD PMID:28393430 RGD:150429639 NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
JBrowse link
dysmyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase IMP RGD PMID:27026062 RGD:13464274 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IMP RGD PMID:27026062 RGD:13464274
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Dop1a DOP1 leucine zipper like protein A IAGP RGD PMID:24863653 RGD:40818080 NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
JBrowse link
G Lpin1 lipin 1 IMP RGD PMID:21715287 RGD:38599010 NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
JBrowse link
G Lpin1m1Hubr lipin 1; ENU induced mutant 1, Hubr IMP compared to Wild type RGD PMID:21715287 RGD:38599010
enhanced long term potentiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcz protein kinase C, zeta IDA normal enhancement of long-term potentiation RGD PMID:15728837 RGD:1642696 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
enhanced NMDA-mediated synaptic currents term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shank2 SH3 and multiple ankyrin repeat domains 2 IMP RGD PMID:29970986 RGD:126790534 NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
JBrowse link
G Shank2em13Sage SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage IMP RGD PMID:29970986 RGD:126790534
environmentally induced seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 IMP RGD PMID:28364455 RGD:12880397 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:28364455 RGD:12880397
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
hypermyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein onset IMP RGD PMID:28860598 RGD:149735331 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset IMP RGD PMID:28860598 RGD:149735331
hypersecretion of adrenocorticotropin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:23799078 RGD:13462048
impaired ability to fire action potentials term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 induces IMP RGD PMID:31550995 RGD:150429745 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Scn9a*tm1Amgn sodium voltage-gated channel alpha subunit 9;ZFN induced target mutant1, Amgn induces IMP RGD PMID:31550995 RGD:150429745
increased excitatory postsynaptic current amplitude term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
increased kindling response term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1e calcium voltage-gated channel subunit alpha1 E IAGP RGD PMID:20638246 RGD:6907065 NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:183,741,455...183,757,290
Ensembl chr 2:183,741,547...183,756,927
JBrowse link
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, IMP RGD PMID:27265781 RGD:12792961
increased microglial cell activation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP DNA:deletion:exon: RGD PMID:28007901 RGD:12879399 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
increased prepulse inhibition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IMP RGD PMID:28281673 RGD:13782149 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Bace1em1Sage IMP RGD PMID:28281673 RGD:13782149
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP RGD PMID:24773431 RGD:9831152 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24773431 RGD:9831152
increased spike-wave discharge type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 onset IMP RGD PMID:30408474 RGD:26923909 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo onset IMP RGD PMID:30408474 RGD:26923909
increased susceptibility to induction of seizure by inducing agent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi1 leucine-rich, glioma inactivated 1 IMP DNA:missense mutation:cds:p.L385R (c.1154T>G) RGD PMID:22589250 RGD:12792971 NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
JBrowse link
G 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
G Scn1a sodium voltage-gated channel alpha subunit 1 IMP RGD PMID:20410126 RGD:12792282 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo IMP RGD PMID:20410126 RGD:12792282
increased susceptibility to ischemic brain injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IDA RGD PMID:14502288 RGD:734740 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
increased susceptibility to pharmacologically induced seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:183,741,455...183,757,290
Ensembl chr 2:183,741,547...183,756,927
JBrowse link
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, IMP RGD PMID:27265781 RGD:12792961
intracranial hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Ccdc85c coiled-coil domain containing 85C IMP RGD PMID:31341137 RGD:150520163 NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371
JBrowse link
G Ccdc85cem1Kyo coiled-coil domain containing 85C; TALEN induced mutant1,Kyo IMP RGD PMID:31341137 RGD:150520163
reduced long term depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L IMP RGD PMID:31678405 RGD:150429833 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
JBrowse link
G Gnalem1Hpng G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng IMP compared to wildtype controls RGD PMID:31678405 RGD:150429833
reduced long term potentiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:11112797 RGD:2292520 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 IMP RGD PMID:11112797 RGD:2292520
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta IMP RGD PMID:33479380 RGD:150519900 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
JBrowse link
G Prkar1bem2Tua protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua IMP RGD PMID:33479380 RGD:150519900
seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2d calcium/calmodulin-dependent protein kinase II delta IAGP DNA:SNP:intron:g.24024428G>T RGD PMID:20638246 RGD:6907065 NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
JBrowse link
subarachnoid hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527

Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5369
    nervous system phenotype 360
      abnormal nervous system physiology 205
        CNS inflammation + 26
        abnormal autonomic nervous system physiology + 7
        abnormal blood-brain barrier function + 6
        abnormal blood-cerebrospinal fluid barrier function 3
        abnormal blood-retina barrier function 0
        abnormal central pattern generator function + 0
        abnormal cerebrospinal fluid physiology + 6
        abnormal embryonic neuroepithelial cell proliferation + 0
        abnormal endoneurial fluid pressure + 0
        abnormal ependyma motile cilium physiology + 0
        abnormal glial cell physiology + 3
        abnormal glymphatic system physiology 6
        abnormal hippocampus physiology 1
        abnormal hypothalamus physiology + 0
        abnormal myelination + 33
        abnormal nervous system electrophysiology + 19
        abnormal nervous system regeneration + 0
        abnormal neuroendocrine gland physiology + 3
        abnormal neuron physiology + 6
        abnormal neuronal stem cell physiology + 0
        abnormal response to CNS ischemic injury + 18
        abnormal sensorimotor gating + 0
        abnormal somatic nervous system physiology + 0
        abnormal somatosensory cortex physiology + 0
        abnormal synaptic physiology + 39
        abnormal tau protein phosphorylation + 0
        brain ischemia 8
        decreased hindbrain apoptosis 0
        encephalopathy 0
        endoneurial edema 0
        increased brain apoptosis + 0
        increased neural tube apoptosis + 0
        increased spinal cord apoptosis 0
        intracranial hemorrhage + 7
        nerve inflammation + 0
        seizures + 47
        spinal hemorrhage 0
paths to the root