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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: HP:0012638;   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:156,932,481...156,995,981
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 Fmr1 fragile X messenger ribonucleoprotein 1 IMP RGD PMID:36536454 RGD:401976434 NCBI chr  X:152,284,857...152,322,686
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:36536454 RGD:401976434
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 4:26,312,403...26,488,456
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 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12663088 RGD:704425 NCBI chr 2:104,059,184...104,061,048
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 5:30,333,793...30,386,702
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:70,469,251...70,497,380
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 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:118,593,881...118,631,584
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 5:30,333,793...30,386,702
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 channel response intensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 IMP RGD PMID:19160503 RGD:529195970 NCBI chr 2:168,247,490...168,367,616
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
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 chr12:20,606,066...20,738,766
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 chr18:6,782,389...6,799,034
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 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:118,593,881...118,631,584
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 hippocampus physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP RGD PMID:36536454 RGD:401976434 NCBI chr  X:152,284,857...152,322,686
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:36536454 RGD:401976434
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 8:62,724,939...62,829,040
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 8:116,158,810...116,171,857
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 4:75,109,358...77,366,258
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
G Fmr1 fragile X messenger ribonucleoprotein 1 no_association
sexual_dimorphism		 IAGP compared to wild type controls
in wild type controls		 RGD PMID:32144356 PMID:32144356 RGD:35668860, RGD:35668860 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1em2Mcwi FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin no_association
sexual_dimorphism		 IAGP compared to wild type controls
in wild type controls		 RGD PMID:32144356 PMID:32144356 RGD:35668860, RGD:35668860
abnormal spike wave discharge term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml1 EMAP like 1 IAGP RGD PMID:32179177 RGD:407985868 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:127,284,029...127,457,246 		JBrowse link
G Eml1tish EMAP like 1, tish mutant IAGP RGD PMID:32179177 RGD:407985868
G 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:147,240,301...147,278,050 		JBrowse link
G 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
G Gad1 glutamate decarboxylase 1 onset IMP RGD PMID:37830095 RGD:405855846 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gad1em15Yyan glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan onset IMP RGD PMID:37830095 RGD:405855846
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 4:20,646,604...21,005,171
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 1:245,455,691...245,497,036
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 1:83,243,043...83,281,707
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 chr19:59,338,402...60,269,323
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 1:55,133,532...55,150,701
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...49,899,983
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 8:84,692,524...84,860,564
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 Eml1 EMAP like 1 IAGP RGD PMID:9236234 RGD:597538480 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:127,284,029...127,457,246 		JBrowse link
G Eml1tish EMAP like 1, tish mutant IAGP RGD PMID:9236234 RGD:597538480
G 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 4:159,464,188...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...49,899,983
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 chr15:87,055,490...87,086,765
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:70,469,251...70,497,380
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 Nrg1 neuregulin 1 sexual_dimorphism IMP compared to wild type female RGD PMID:21620900 RGD:405650204 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nrg1Tn(sb-T2/Bart3)2.183Mcwi neuregulin 1; transposon insertion 2.183, Medical College of Wisconsin sexual_dimorphism IMP compared to wild type female RGD PMID:21620900 RGD:405650204
G Pax6 paired box 6 IAGP DNA:frameshift mutation:cds: RGD PMID:21203536 RGD:8552339 NCBI chr 3:112,590,034...112,611,771
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 chr19:40,425,560...40,724,810
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...49,899,983
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 susceptibility to neuronal excitotoxicity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha IMP RGD PMID:16837598 RGD:13506279 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
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 chr18:62,892,257...63,032,510
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 1:103,415,411...103,422,682
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 9:2,004,836...2,012,281
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 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:118,593,881...118,631,584
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 6:45,039,110...45,145,845
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 5:171,101,774...171,212,694
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 1:208,575,144...209,020,300
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 4:75,109,358...77,366,258
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 4:161,150,378...161,160,051
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 chr14:78,035,205...78,059,718
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 7:124,706,246...124,867,234
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 4:20,646,604...21,005,171
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 chr13:69,125,048...69,613,795
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 2:183,741,489...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 8:62,724,939...62,829,040
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 miniature inhibitory postsynaptic current frequency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir500 microRNA 500 IMP RGD PMID:27277808 RGD:405850240 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir500 em1Cgen microRNA 500 IMP RGD PMID:27277808 RGD:405850240
increased paired-pulse inhibition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP compared to wild type controls RGD PMID:38378836 PMID:38107412 RGD:401976422, RGD:401976423 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1em2Mcwi FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin IMP compared to wild type controls RGD PMID:38378836 PMID:38107412 RGD:401976422, RGD:401976423
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 8:55,038,842...55,061,138
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:152,284,857...152,322,686
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...49,899,983
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 1:245,455,691...245,497,036
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 3:71,360,840...71,479,870
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 chr10:6,136,458...6,560,003
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 2:183,741,489...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 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:118,593,881...118,631,584
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 chr18:62,892,257...63,032,510
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 chr14:32,901,615...32,978,895
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 chr12:20,606,066...20,738,766
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 2:217,698,324...217,961,898
Ensembl chr 2:215,024,004...215,286,178 		JBrowse link
G Plp1 proteolipid protein 1 IAGP RGD PMID:2479544 RGD:1358781 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Plp1md proteolipid protein 1; Myelin-deficient IAGP RGD PMID:2479544 RGD:1358781
subarachnoid hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:118,593,881...118,631,584
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 5428
    nervous system phenotype 383
      abnormal nervous system physiology 224
        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 4
        abnormal hypothalamus physiology + 0
        abnormal myelination + 32
        abnormal nervous system electrophysiology + 23
        abnormal nervous system regeneration + 0
        abnormal neuroendocrine gland physiology + 3
        abnormal neuron physiology + 7
        abnormal neuronal stem cell physiology + 0
        abnormal response to CNS ischemic injury + 18
        abnormal response to brain injury + 18
        abnormal response to nerve crush injury + 0
        abnormal sensorimotor gating + 0
        abnormal somatic nervous system physiology + 0
        abnormal somatosensory cortex physiology + 0
        abnormal synaptic physiology + 48
        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 + 58
        spinal hemorrhage 0
paths to the root