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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 morphology
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Accession:MP:0003632 term browser browse the term
Definition:any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions
Synonyms:exact_synonym: nervous system dysplasia;   neurologic malformation
 narrow_synonym: abnormal central nervous system morphology;   abnormal peripheral nervous system;   abnormal peripheral nervous system morphology;   central nervous system abnormalities;   central nervous system anomaly;   central nervous system defects;   central nervous system: other dysmorphology;   other abnormal central nervous system morphology;   peripheral nervous system abnormalities;   peripheral nervous system abnormality;   peripheral nervous system anomaly;   peripheral nervous system defects;   peripheral nervous system: dysmorphology
 alt_id: MP:0000769;   MP:0000957;   MP:0002153;   MP:0002157;   MP:0002170;   MP:0002171
 xref: Fyler:4135;   Fyler:4300;   GO:0007417;   MGI:2173613;   MGI:2173617


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abnormal abducens nerve morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:9247338 RGD:731242 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
abnormal brain development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin IMP RGD PMID:14625554 RGD:1304461 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
abnormal brain morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor IAGP RGD PMID:17490813 RGD:10043338 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
abnormal brain white matter morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IMP RGD PMID:31371763 RGD:14981598 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Cyfip1em1Sage cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage IMP RGD PMID:31371763 RGD:14981598
abnormal cochlear hair cell stereociliary bundle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Myo7atnd/Hubr myosin VIIA; ENU induced tornado mutant, Hubr IAGP DNA:nonsense mutation:cds RGD PMID:15965244 RGD:1581470
abnormal corpus callosum morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule IMP RGD PMID:30738385 RGD:14695001 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
abnormal dendrite morphology term browser
Symbol Object Name 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 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
abnormal enteric ganglia morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP RGD PMID:9739043, PMID:8570650 RGD:628516, RGD:628515 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
abnormal hypoglossal nerve morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:9247338 RGD:731242 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
abnormal lateral ventricle morphology term browser
Symbol Object Name 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 chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
abnormal Muller cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 IAGP RGD PMID:25878282 RGD:13451131
abnormal neocortex morphology term browser
Symbol Object Name 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 chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
abnormal neuron morphology term browser
Symbol Object Name 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 chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
abnormal retinal horizontal cell morphology term browser
Symbol Object Name 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:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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 Schwann cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
abnormal sciatic nerve morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G Lpin1 lipin 1 IMP RGD PMID:21715287 RGD:38599010 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
abnormal thalamus morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
absent cerebellum vermis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc5c unc-5 netrin receptor C IAGP RGD PMID:14993736 RGD:1302461 NCBI chr 2:247,045,813...247,397,483
Ensembl chr 2:247,248,407...247,397,483
JBrowse link
G Unc5ccvd unc-5 netrin receptor C; cerebellar vermis defect IAGP RGD PMID:14993736 RGD:1302461
G Unc5chob unc-5 netrin receptor C; hobble mutant IAGP RGD PMID:14993736 RGD:1302461
axonal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
brain vacuoles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase IMP RGD PMID:27026062 RGD:13464274 NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IMP RGD PMID:27026062 RGD:13464274
G Dop1a DOP1 leucine zipper like protein A IAGP RGD PMID:24863653 RGD:40818080 NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
JBrowse link
cerebral edema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hvcn1 hydrogen voltage-gated channel 1 IMP RGD PMID:31250553 RGD:14985213 NCBI chr12:39,822,814...39,851,093
Ensembl chr12:39,822,637...39,850,567
JBrowse link
decreased brain weight term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
decreased forebrain size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:11932363 RGD:13204832 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:11932363 RGD:13204832
decreased microglial cell number term browser
Symbol Object Name 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 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
decreased motor neuron number term browser
Symbol Object Name 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 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
decreased myelin sheath thickness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IMP RGD PMID:28281673 RGD:13782149 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
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 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Cyfip1em1Sage cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage IMP RGD PMID:31371763 RGD:14981598
decreased oligodendrocyte number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IMP RGD PMID:31371763 RGD:14981598 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Cyfip1em1Sage cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage IMP RGD PMID:31371763 RGD:14981598
dilated lateral ventricles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
enlarged fourth ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule IMP RGD PMID:30738385 RGD:14695001 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
enlarged lateral ventricles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G L1cam L1 cell adhesion molecule IMP RGD PMID:30738385 RGD:14695001 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
increased brain ependyma motile cilium length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
increased brain size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:24244710 RGD:12880447 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24244710 RGD:12880447
increased brain weight term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:24244710 RGD:12880447 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24244710 RGD:12880447
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
loss of dopaminergic neurons term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
microgliosis term browser
Symbol Object Name 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 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand IDA RGD PMID:15644446 RGD:1358616 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta IDA RGD PMID:15073173 RGD:1358648 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Htt huntingtin IMP RGD PMID:25162006 RGD:13452380 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link
photoreceptor outer segment degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:23516626 RGD:11535084 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
small adenohypophysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tg thyroglobulin IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373
spongiform encephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AspatmKyo aspartoacylase;tremor, Kyo IAGP RGD PMID:10820213 RGD:628404

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 4987
    nervous system phenotype 284
      abnormal nervous system morphology 142
        abnormal autonomic nervous system morphology + 2
        abnormal brain morphology + 93
        abnormal ependyma morphology + 3
        abnormal glial cell morphology + 12
        abnormal glymphatic system morphology 0
        abnormal innervation + 2
        abnormal meninges morphology + 0
        abnormal nervous system development + 10
        abnormal nervous system tract morphology + 3
        abnormal neuron morphology + 39
        abnormal somatic nervous system morphology + 19
        abnormal spinal cord morphology + 13
        decreased nervous system tumor incidence 0
        encephalomeningocele 0
        increased nervous system tumor incidence + 0
        nervous system inclusion bodies + 5
        neurodegeneration + 20
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.