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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 involuntary movement
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Accession:MP:0003492 term browser browse the term
Definition:anomaly in movements that occur independent of planning (e.g. reflexive behavior)


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abnormal involuntary movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk6 G protein-coupled receptor kinase 6 IMP associated with Parkinson Disease RGD PMID:20410529 RGD:5684919 NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 treatment IMP RGD PMID:29530712 RGD:40924655 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin treatment IMP RGD PMID:29530712 RGD:40924655
abnormal reflex 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 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 IMP RGD PMID:30408474 RGD:26923909
abnormal response to electrical stimuli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm2 glutamate metabotropic receptor 2 IMP knockout compared to wild type RGD PMID:28700935 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 RGD:38501064
abnormal startle reflex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 sexual_dimorphism
no_association		 IAGP in wild type controls
compared to 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 sexual_dimorphism
no_association		 IAGP in wild type controls
compared to wild type controls		 RGD PMID:32144356 PMID:32144356 RGD:35668860, RGD:35668860
decreased startle reflex 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 Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP compared to wild type RGD PMID:32259258 RGD:39457703
hyperresponsive to tactile stimuli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano3 anoctamin 3 IMP RGD PMID:23872594 RGD:9681745 NCBI chr 3:97,235,671...97,550,090
Ensembl chr 3:97,238,354...97,550,154 		JBrowse link
G Gla galactosidase, alpha IMP RGD PMID:29563343 RGD:150429980 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 RGD:150429980
hyporesponsive to tactile stimuli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
increased startle reflex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrl3 adhesion G protein-coupled receptor L3 IMP compared to wild type RGD PMID:31176715 RGD:127285660 NCBI chr14:26,336,320...27,104,060
Ensembl chr14:26,368,277...27,105,860 		JBrowse link
G Adgrl3em1Huyc adhesion G protein-coupled receptor L3; CRISPR/Cas9 induced mutant1, Huyc IMP compared to wild type RGD PMID:31176715 RGD:127285660
G Cntnap2 contactin associated protein 2 IMP 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 RGD PMID:30126973 RGD:126790476
G Nrg1 neuregulin 1 sexual_dimorphism IAGP compared to 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 IAGP compared to female RGD PMID:21620900 RGD:405650204
G Nrxn1 neurexin 1 IMP compared to wild type littermate RGD PMID:25420124 RGD:12914797 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Nrxn1em1 neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP compared to wild type littermate RGD PMID:25420124 RGD:12914797
limb grasping term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 IMP compared to SD wild-type RGD PMID:27329765 RGD:40924662 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 compared to SD wild-type RGD PMID:27329765 RGD:40924662
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
opisthotonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA IAGP DNA:rearrangement:exon:a 141-bp exon skipped RGD PMID:17185506 RGD:1600835 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
tremors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 IAGP RGD PMID:27013529 RGD:13825260 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atrn attractin IAGP DNA:deletion:exon RGD PMID:12379762 PMID:11209055 RGD:1299186, RGD:67998 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Kcnn2Trdk potassium calcium-activated channel subfamily N member 2; Trdk mutant IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907
G Plp1 proteolipid protein 1 IAGP RGD PMID:434110 PMID:2479544 RGD:1358782, RGD:1358781 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Plp1md proteolipid protein 1; Myelin-deficient IAGP RGD PMID:2479544 RGD:1358781
G Tubb4a tubulin, beta 4A class IVa IAGP DNA:missense mutation:cds:p.Ala302Thr (rat) RGD PMID:28393430 RGD:150429639 NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5417
    behavior/neurological phenotype 609
      abnormal behavior 608
        abnormal motor capabilities/coordination/movement 239
          abnormal involuntary movement 75
            abnormal reflex + 51
            athetotic walking movements 0
            dystonia + 0
            emprosthotonos 0
            opisthotonus 2
            tremors 18
paths to the root