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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 neuron morphology
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Accession:MP:0002882 term browser browse the term
Definition:any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses
Synonyms:exact_synonym: neuron dysplasia


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abnormal neuron morphology 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 compared to wild type controls RGD PMID:26166728 RGD:11080370 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 compared to wild type controls RGD PMID:26166728 RGD:11080370
abnormal axon morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrn attractin IAGP RGD PMID:12379762 RGD:1299186 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Atrnmv attractin; myelin vacuolation mutant IAGP RGD PMID:12379762 RGD:1299186
abnormal dendrite morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ilk integrin-linked kinase IMP inhibition in the nucleus accumbens decreases dendrite density of medium spiny neurons RGD PMID:18602949 RGD:2301736 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
abnormal hippocampal pyramidal neuron dendrite morphology 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
abnormal motor neuron dendrite morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 IMP RGD PMID:31875236 RGD:127285808 NCBI chr14:1,184,677...1,216,392 JBrowse link
abnormal motor neuron morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to wild type RGD PMID:34541380 RGD:401976419 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:34541380 RGD:401976419
abnormal neuron number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir195 microRNA 195 IMP in hippocampus RGD PMID:32272873 RGD:45073134 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
abnormal postsynaptic density morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 KLF transcription factor 5 IMP RGD PMID:32272873 RGD:45073134 NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Mir195 microRNA 195 IMP RGD PMID:32272873 RGD:45073134 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
abnormal retina horizontal cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386
abnormal sensory neuron morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to wild type RGD PMID:29563343 PMID:34541380 RGD:150429980, RGD:401976419 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 PMID:34541380 RGD:150429980, RGD:401976419
abnormal synaptic vesicle number 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 4:19,691,439...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 RGD PMID:31074746 RGD:41408338
decreased motor neuron number 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 8:53,828,741...53,932,773
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
decreased myelin sheath amount term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrn attractin IAGP RGD PMID:12379762 RGD:1299186 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Atrnmv attractin; myelin vacuolation mutant IAGP RGD PMID:12379762 RGD:1299186
decreased myelin sheath thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrn attractin IAGP RGD PMID:12379762 RGD:1299186 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Atrnmv attractin; myelin vacuolation mutant IAGP RGD PMID:12379762 RGD:1299186
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 Cyfip1 cytoplasmic FMR1 interacting protein 1 IMP RGD PMID:31371763 RGD:14981598 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Cyfip1em1Sage cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage IMP RGD PMID:31371763 RGD:14981598
decreased neuron number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 KLF transcription factor 5 IMP in hippocampus RGD PMID:32272873 RGD:45073134 NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
decreased Purkinje cell number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a6 solute carrier family 9 member A6 IMP RGD PMID:34928329 RGD:151664747 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slc9a6 em1Moro solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro IMP RGD PMID:34928329 RGD:151664747
loss of dopaminergic neurons term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
G Pink1 PTEN induced kinase 1 IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
loss of hippocampal neurons term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a6 solute carrier family 9 member A6 IMP RGD PMID:34928329 RGD:151664747 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slc9a6 em1Moro solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro IMP RGD PMID:34928329 RGD:151664747
neuron hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to wild type RGD PMID:34541380 RGD:401976419 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:34541380 RGD:401976419
photoreceptor outer segment degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:23516626 RGD:11535084 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
retina photoreceptor degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase treatment IAGP RGD PMID:11592982 RGD:69668 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant treatment IAGP RGD PMID:11592982 RGD:69668
G Myo15a myosin XVA induces IAGP DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm		 RGD PMID:21479269 PMID:21479269 RGD:150429616, RGD:150429616 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo15aci2 myosin XVA; ci2 mutant induces IAGP compared to LEW/Ztm RGD PMID:21479269 RGD:150429616
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5417
    nervous system phenotype 377
      abnormal nervous system morphology 215
        abnormal neuron morphology 73
          abnormal Cajal-Retzius cell morphology + 0
          abnormal GABAergic neuron morphology + 0
          abnormal Purkinje cell morphology + 4
          abnormal adrenergic neuron morphology 0
          abnormal brain interneuron morphology 0
          abnormal cerebral cortex pyramidal cell morphology + 0
          abnormal cholinergic neuron morphology + 0
          abnormal dopaminergic neuron morphology + 7
          abnormal enteric neuron morphology + 0
          abnormal glutaminergic neuron morphology + 0
          abnormal glycinergic neuron morphology 0
          abnormal hippocampus neuron morphology + 3
          abnormal medium spiny neuron morphology 1
          abnormal motor neuron morphology + 16
          abnormal neurite morphology + 17
          abnormal neuroendocrine cell morphology + 0
          abnormal neuron differentiation + 0
          abnormal neuron mitochondrial morphology + 0
          abnormal neuron number + 14
          abnormal neuron polarity 0
          abnormal neuron specification 0
          abnormal peptidergic neuron morphology 0
          abnormal sensory neuron morphology + 21
          abnormal serotonergic neuron morphology 0
          abnormal spinal cord interneuron morphology + 0
          abnormal synapse morphology + 4
          abnormal thalamus neuron morphology 0
          chromatolysis 0
          ectopic neuron + 0
          neuron degeneration + 19
          neuron hypertrophy + 3
          neuronal cytoplasmic inclusions 0
          neuronal intranuclear inclusions 1
paths to the root