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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 electrophysiology
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Accession:MP:0002272 term browser browse the term
Definition:any functional anomaly of the nervous system as it relates to conduction of electrical impulses
Synonyms:exact_synonym: abnormal electrophysiology;   electrophysiology abnormalities
 narrow_synonym: PNS electrophysiology abnormalities
 alt_id: MP:0002677


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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 Fmr1 fragile X messenger ribonucleoprotein 1 IMP RGD PMID:36536454 RGD:401976434 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: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 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 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
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
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
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5419
    nervous system phenotype 378
      abnormal nervous system physiology 218
        abnormal nervous system electrophysiology 23
          abnormal action potential + 6
          abnormal afterhyperpolarization 11
          abnormal brain wave pattern 4
          abnormal nerve conduction + 1
          abnormal nerve fiber response + 8
          abnormal single cell response + 0
          abnormal summary potential + 1
paths to the root