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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 CNS synaptic transmission
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Accession:MP:0002206 term browser browse the term
Definition:defect in the communication from a neuron to a target across a synapse in the central nervous system
Synonyms:exact_synonym: abnormal CNS neurotransmission
 broad_synonym: abnormal synaptic transmission


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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 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
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:147,240,239...147,278,057
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
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 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
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
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 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
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
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5402
    nervous system phenotype 369
      abnormal nervous system physiology 210
        abnormal synaptic physiology 42
          abnormal synaptic transmission 41
            abnormal CNS synaptic transmission 37
              abnormal GABA-mediated receptor currents 0
              abnormal acid-activated cation-mediated receptor currents 0
              abnormal excitatory postsynaptic currents + 5
              abnormal excitatory postsynaptic potential 3
              abnormal glutamate-mediated receptor currents + 3
              abnormal inhibitory postsynaptic currents + 0
              abnormal inhibitory postsynaptic potential 0
              abnormal long-term potentiation + 7
              abnormal miniature excitatory postsynaptic currents + 0
              abnormal miniature inhibitory postsynaptic currents + 0
              abnormal nicotine-mediated receptor currents 0
              abnormal post-tetanic potentiation + 0
              abnormal prepulse inhibition + 18
              abnormal synaptic depression + 4
paths to the root