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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 paired-pulse facilitation
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Accession:MP:0002918 term browser browse the term
Definition:defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus
Synonyms:exact_synonym: abnormal PPF


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abnormal paired-pulse facilitation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadps2 Ca2+-dependent activator protein for secretion 2 IAGP MGI PMID:17344385 NCBI chr 6:23,262,765...23,840,662
Ensembl chr 6:23,262,772...23,839,420 		JBrowse link
G Cnr1 cannabinoid receptor 1 IAGP MGI PMID:12152079 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831 		JBrowse link
G Gria2 glutamate receptor, ionotropic, AMPA2 (alpha 2) IAGP MGI PMID:16914668 NCBI chr 3:80,588,757...80,711,534
Ensembl chr 3:80,588,757...80,710,142 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 IAGP MGI PMID:9581771 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Otof otoferlin IAGP MGI PMID:25253474 NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Pianp PILR alpha associated neural protein IAGP MGI PMID:31511635 NCBI chr 6:124,973,683...124,980,059
Ensembl chr 6:124,973,657...124,980,059 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 IAGP MGI PMID:11797009 NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		JBrowse link
decreased paired-pulse facilitation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2, brain IAGP MGI PMID:31285321 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Atxn1 ataxin 1 IAGP MGI PMID:9651231 NCBI chr13:45,703,231...46,118,467
Ensembl chr13:45,703,231...46,118,484 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha IAGP MGI PMID:1378648 NCBI chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1, CNS IAGP MGI PMID:16290192 PMID:20080609 NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951 		JBrowse link
G Cul3 cullin 3 IAGP MGI PMID:31780330 NCBI chr 1:80,242,640...80,318,426
Ensembl chr 1:80,242,640...80,318,197 		JBrowse link
G Emx1 empty spiracles homeobox 1 IAGP MGI PMID:20080609 NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444 		JBrowse link
G Fbxl20 F-box and leucine-rich repeat protein 20 IAGP MGI PMID:17803915 NCBI chr11:97,973,380...98,042,014
Ensembl chr11:97,973,382...98,041,229 		JBrowse link
G Grik2 glutamate receptor, ionotropic, kainate 2 (beta 2) IAGP MGI PMID:11182092 PMID:17620617 NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862 		JBrowse link
G Grik3 glutamate receptor, ionotropic, kainate 3 IAGP MGI PMID:17620617 NCBI chr 4:125,384,025...125,607,966
Ensembl chr 4:125,384,493...125,607,966 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 IAGP MGI PMID:19778510 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) IAGP MGI PMID:19778510 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Grm4 glutamate receptor, metabotropic 4 IAGP MGI PMID:8815915 NCBI chr17:27,641,361...27,732,800
Ensembl chr17:27,641,361...27,740,377 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 IAGP MGI PMID:22096518 NCBI chr  X:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536 		JBrowse link
G Htr1a 5-hydroxytryptamine (serotonin) receptor 1A IAGP MGI PMID:10751426 PMID:11121072 NCBI chr13:105,580,040...105,584,630
Ensembl chr13:105,580,147...105,584,630 		JBrowse link
G Htt huntingtin IAGP MGI PMID:24728353 NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Ip6k1 inositol hexaphosphate kinase 1 IAGP MGI PMID:32252022 NCBI chr 9:107,879,847...107,925,981
Ensembl chr 9:107,879,700...107,925,981 		JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 IAGP MGI PMID:26776509 NCBI chr10:63,764,276...63,926,034
Ensembl chr10:63,764,251...63,926,056 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 IAGP MGI PMID:16950157 NCBI chr15:74,619,705...74,624,828
Ensembl chr15:74,619,701...74,624,895 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 IAGP MGI PMID:15816869 NCBI chr11:49,737,558...49,777,248
Ensembl chr11:49,737,578...49,777,248 		JBrowse link
G Pdzd8 PDZ domain containing 8 IAGP MGI PMID:35227461 NCBI chr19:59,284,516...59,334,212
Ensembl chr19:59,285,610...59,334,212 		JBrowse link
G Pfn2 profilin 2 IAGP MGI PMID:17541406 NCBI chr 3:57,749,316...57,755,178
Ensembl chr 3:57,749,316...57,755,500 		JBrowse link
G Psen1 presenilin 1 IAGP MGI PMID:25741723 NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973 		JBrowse link
G Psen2 presenilin 2 IAGP MGI PMID:25741723 NCBI chr 1:180,054,569...180,091,030
Ensembl chr 1:180,054,569...180,091,003 		JBrowse link
G Rap1a RAS-related protein 1a IAGP MGI PMID:18305243 NCBI chr 3:105,634,576...105,708,740
Ensembl chr 3:105,634,583...105,708,652 		JBrowse link
G Rap1b RAS related protein 1b IAGP MGI PMID:18305243 NCBI chr10:117,650,502...117,681,879
Ensembl chr10:117,649,776...117,681,940 		JBrowse link
G Rbfox3 RNA binding protein, fox-1 homolog (C. elegans) 3 IAGP MGI PMID:26619789 NCBI chr11:118,380,586...118,802,423
Ensembl chr11:118,380,588...118,802,423 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 IAGP MGI PMID:11797009 NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		JBrowse link
G Rnf112 ring finger protein 112 IAGP MGI PMID:26212327 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 IAGP MGI PMID:18718479 NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824 		JBrowse link
G Sct secretin IAGP MGI PMID:18534766 NCBI chr 7:140,858,243...140,859,082
Ensembl chr 7:140,858,243...140,859,046 		JBrowse link
G Snap25 synaptosomal-associated protein 25 IAGP MGI PMID:19043548 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Stxbp5l syntaxin binding protein 5-like IAGP MGI PMID:24744148 NCBI chr16:36,927,437...37,205,377
Ensembl chr16:36,935,304...37,205,324 		JBrowse link
G Syngr1 synaptogyrin 1 IAGP MGI PMID:10595519 NCBI chr15:79,975,537...80,003,702
Ensembl chr15:79,975,535...80,003,702 		JBrowse link
G Syp synaptophysin IAGP MGI PMID:10595519 NCBI chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		JBrowse link
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 IAGP MGI PMID:20080621 NCBI chr 5:66,833,464...66,844,577
Ensembl chr 5:66,833,434...66,844,577 		JBrowse link
G Usp14 ubiquitin specific peptidase 14 IAGP MGI PMID:12368914 PMID:18771733 NCBI chr18:9,993,615...10,030,149
Ensembl chr18:9,993,066...10,045,119 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 IAGP MGI PMID:11907043 NCBI chr11:52,251,905...52,280,224
Ensembl chr11:52,251,687...52,280,224 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 IAGP MGI PMID:11907043 NCBI chr 8:23,067,091...23,083,829
Ensembl chr 8:23,067,102...23,083,774 		JBrowse link
enhanced paired-pulse facilitation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 IAGP MGI PMID:15728854 NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391 		JBrowse link
G Apba1 amyloid beta precursor protein binding family A member 1 IAGP MGI PMID:17167098 NCBI chr19:23,736,170...23,926,961
Ensembl chr19:23,736,251...23,926,960 		JBrowse link
G Apba2 amyloid beta precursor protein binding family A member 2 IAGP MGI PMID:17167098 NCBI chr 7:64,151,444...64,403,620
Ensembl chr 7:64,151,454...64,403,626 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 IAGP MGI PMID:16354928 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Btbd9 BTB domain containing 9 IAGP MGI PMID:31715135 NCBI chr17:30,434,498...30,801,595
Ensembl chr17:30,434,498...30,795,462 		JBrowse link
G C3 complement component 3 IAGP MGI PMID:26400934 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MGI PMID:12040045 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Chrd chordin IAGP MGI PMID:17634368 NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134 		JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 IAGP MGI PMID:15848802 NCBI chr 9:110,072,851...110,091,644
Ensembl chr 9:110,072,851...110,091,644 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IAGP MGI PMID:26474913 NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IAGP MGI PMID:9853749 PMID:23268962 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 IAGP MGI PMID:23175442 NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		JBrowse link
G Fgf22 fibroblast growth factor 22 IAGP MGI PMID:20505669 NCBI chr10:79,590,887...79,593,629
Ensembl chr10:79,590,910...79,594,430 		JBrowse link
G Foxp2 forkhead box P2 IAGP MGI PMID:18328704 NCBI chr 6:14,901,348...15,441,976
Ensembl chr 6:14,901,348...15,441,976 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 IAGP MGI PMID:11027356 PMID:18829665 NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G Gys1 glycogen synthase 1, muscle IAGP MGI PMID:23281428 NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043 		JBrowse link
G H2-D1 histocompatibility 2, D region locus 1 IAGP MGI PMID:19346486 NCBI chr17:35,482,070...35,486,473
Ensembl chr17:35,481,706...35,486,475 		JBrowse link
G Ip6k1 inositol hexaphosphate kinase 1 IAGP MGI PMID:32252022 NCBI chr 9:107,879,847...107,925,981
Ensembl chr 9:107,879,700...107,925,981 		JBrowse link
G Mapt microtubule-associated protein tau IAGP MGI PMID:22378884 NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916 		JBrowse link
G Mef2a myocyte enhancer factor 2A IAGP MGI PMID:22496871 NCBI chr 7:66,880,911...67,026,435
Ensembl chr 7:66,880,911...67,022,606 		JBrowse link
G Mef2c myocyte enhancer factor 2C IAGP MGI PMID:22496871 NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199 		JBrowse link
G Mef2d myocyte enhancer factor 2D IAGP MGI PMID:22496871 NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		JBrowse link
G Nexmif neurite extension and migration factor IAGP MGI PMID:31704787 NCBI chr  X:103,120,367...103,245,403
Ensembl chr  X:103,121,040...103,244,791 		JBrowse link
G Ptn pleiotrophin IAGP MGI PMID:11414790 NCBI chr 6:36,691,863...36,787,114
Ensembl chr 6:36,691,864...36,787,155 		JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D IAGP MGI PMID:10856223 NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family IAGP MGI PMID:16436611 NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323 		JBrowse link
G Rab3b RAB3B, member RAS oncogene family IAGP MGI PMID:16436611 NCBI chr 4:108,736,267...108,800,521
Ensembl chr 4:108,736,260...108,800,521 		JBrowse link
G Rab3c RAB3C, member RAS oncogene family IAGP MGI PMID:16436611 NCBI chr13:110,190,721...110,417,530
Ensembl chr13:110,190,721...110,417,530 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family IAGP MGI PMID:16436611 NCBI chr 9:21,818,787...21,829,623
Ensembl chr 9:21,818,787...21,829,488 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 IAGP MGI PMID:16782817 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Rimbp2 RIMS binding protein 2 IAGP MGI PMID:27671655 NCBI chr 5:128,834,852...129,030,636
Ensembl chr 5:128,834,855...129,030,550 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 IAGP MGI PMID:11797009 PMID:19074017 NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		JBrowse link
G Shisa9 shisa family member 9 IAGP MGI PMID:29343769 NCBI chr16:11,801,457...12,088,768
Ensembl chr16:11,801,977...12,088,766 		JBrowse link
G Sirpa signal-regulatory protein alpha IAGP MGI PMID:24036914 NCBI chr 2:129,432,962...129,474,148
Ensembl chr 2:129,434,755...129,474,148 		JBrowse link
G Slc8a2 solute carrier family 8 (sodium/calcium exchanger), member 2 IAGP MGI PMID:12818181 NCBI chr 7:15,861,540...15,894,988
Ensembl chr 7:15,863,751...15,894,988 		JBrowse link
G Snap25 synaptosomal-associated protein 25 IAGP MGI PMID:15470145 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Snap91 synaptosomal-associated protein 91 IAGP MGI PMID:26412491 NCBI chr 9:86,647,976...86,762,766
Ensembl chr 9:86,647,976...86,762,707 		JBrowse link
G Snph syntaphilin IAGP MGI PMID:18191227 NCBI chr 2:151,432,469...151,474,527
Ensembl chr 2:151,432,469...151,474,513 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence IAGP MGI PMID:19118178 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
G Ston2 stonin 2 IAGP MGI PMID:23345427 NCBI chr12:91,599,686...91,753,237
Ensembl chr12:91,641,586...91,652,887
Ensembl chr12:91,641,586...91,652,887 		JBrowse link
G Stx1a syntaxin 1A (brain) IAGP MGI PMID:24136198 NCBI chr 5:135,051,473...135,079,954
Ensembl chr 5:135,052,336...135,079,954 		JBrowse link
G Stxbp5 syntaxin binding protein 5 (tomosyn) IAGP MGI PMID:18936251 NCBI chr10:9,631,285...9,776,987
Ensembl chr10:9,631,291...9,776,823 		JBrowse link
G Syn1 synapsin I IAGP MGI PMID:7902212 NCBI chr  X:20,726,750...20,787,157
Ensembl chr  X:20,726,750...20,787,243 		JBrowse link
G Syt2 synaptotagmin II IAGP MGI PMID:17192432 NCBI chr 1:134,574,319...134,680,887
Ensembl chr 1:134,574,415...134,690,331 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase IAGP MGI PMID:23035106 NCBI chr 3:28,317,362...28,724,734
Ensembl chr 3:28,317,363...28,730,007 		JBrowse link
G Tspoap1 TSPO associated protein 1 IAGP MGI PMID:27671655 NCBI chr11:87,649,022...87,676,754
Ensembl chr11:87,651,367...87,676,754 		JBrowse link
G Unc13c unc-13 homolog C IAGP MGI PMID:11150314 NCBI chr 9:73,386,704...73,915,421
Ensembl chr 9:73,386,704...73,876,248 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 IAGP MGI PMID:26412491 NCBI chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17090
    nervous system phenotype 4653
      abnormal nervous system physiology 2731
        abnormal synaptic physiology 1238
          abnormal synaptic transmission 1229
            abnormal paired-pulse facilitation 89
              decreased paired-pulse facilitation 38
              enhanced paired-pulse facilitation 48
paths to the root