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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 synaptic transmission
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Accession:MP:0003635 term browser browse the term
Definition:defect in the communication from a neuron to a target across a synapse
Synonyms:exact_synonym: abnormal neurotransmission
 alt_id: MP:0002202


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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 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
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 Nrg1 neuregulin 1 sexual_dimorphism IMP compared to wild type female RGD PMID:21620900 RGD:405650204 NCBI chr16:59,250,658...60,304,519
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 3:92,128,772...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 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: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 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 8:46,142,060...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
Path 1
Term Annotations click to browse term
  mammalian phenotype 5418
    nervous system phenotype 378
      abnormal nervous system physiology 218
        abnormal synaptic physiology 47
          abnormal synaptic transmission 46
            abnormal CNS synaptic transmission + 42
            abnormal PNS synaptic transmission + 0
            abnormal channel response + 0
            abnormal neurotransmitter secretion + 5
            abnormal neurotransmitter uptake 0
            abnormal paired-pulse facilitation + 0
            abnormal paired-pulse inhibition + 3
            abnormal paired-pulse ratio + 0
            abnormal synaptic neurotransmitter level 0
paths to the root