Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
episodic kinesigenic dyskinesia 1 | PRRT2* | Prrt2* | 2 models | Alliance of Genome Resources | |||
myoclonic dystonia 11 | SGCE* | Sgce* | 2 models | Alliance of Genome Resources | |||
paroxysmal nonkinesigenic dyskinesia 1 | PNKD* | Pnkd* | 2 models | Alliance of Genome Resources | |||
torsion dystonia 1 | TOR1A* | Tor1a* | 4 models | Alliance of Genome Resources | |||
torsion dystonia 6 | THAP1* | Thap1* | 2 models | Alliance of Genome Resources | |||
focal dystonia | TOR1A | Tor1a* | 1 model | Alliance of Genome Resources | |||
generalized dystonia | CACNA1A | Cacna1a* | 2 models | Alliance of Genome Resources | |||
blepharospasm | DRD5* | Drd5 | Alliance of Genome Resources | ||||
cervical dystonia | HLA-DQB1*, HLA-DQB2 | H2-Ab1 | Alliance of Genome Resources | ||||
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | MECR* | Mecr | Alliance of Genome Resources | ||||
dopa-responsive dystonia | GCH1* | Gch1 | Alliance of Genome Resources | ||||
dystonia | GCH1* | Gch1 | Alliance of Genome Resources | ||||
dystonia | SPR* | Spr | Alliance of Genome Resources | ||||
dystonia | TIMM8A* | Timm8a1 | Alliance of Genome Resources | ||||
dystonia 12 | PLA2G6* | Pla2g6 | Alliance of Genome Resources | ||||
dystonia 12 | ATP1A3* | Atp1a3 | Alliance of Genome Resources | ||||
dystonia 16 | PRKRA* | Prkra | Alliance of Genome Resources | ||||
dystonia 22, adult-onset | TSPOAP1* | Tspoap1 | Alliance of Genome Resources | ||||
dystonia 22, juvenile-onset | TSPOAP1* | Tspoap1 | Alliance of Genome Resources | ||||
dystonia 24 | ANO3* | Ano3 | Alliance of Genome Resources | ||||
dystonia 25 | GNAL* | Gnal | Alliance of Genome Resources | ||||
dystonia 27 | COL6A3* | Col6a3 | Alliance of Genome Resources | ||||
dystonia 28, childhood-onset | KMT2B* | Kmt2b | Alliance of Genome Resources | ||||
dystonia 30 | VPS16* | Vps16 | Alliance of Genome Resources | ||||
dystonia 31 | AOPEP* | Aopep | Alliance of Genome Resources | ||||
dystonia 32 | VPS11* | Vps11 | Alliance of Genome Resources | ||||
dystonia 33 | EIF2AK2* | Eif2ak2 | Alliance of Genome Resources | ||||
dystonia 35, childhood-onset | SHQ1* | Shq1 | Alliance of Genome Resources | ||||
dystonia 37, early-onset with striatal lesions | NUP54* | Nup54 | Alliance of Genome Resources | ||||
dystonia 9 | SLC2A1* | Slc2a1 | Alliance of Genome Resources | ||||
early-onset dystonia and/or spastic paraplegia | ATP5MC3* | Atp5mc3 | Alliance of Genome Resources | ||||
episodic kinesigenic dyskinesia 3 | TMEM151A* | Tmem151a | Alliance of Genome Resources | ||||
glucose transporter type 1 deficiency syndrome 2 | SLC2A1* | Slc2a1 | Alliance of Genome Resources | ||||
myoclonic dystonia 26 | KCTD17* | Kctd17 | Alliance of Genome Resources | ||||
myoclonic dystonia 34 | KCNN2* | Kcnn2 | Alliance of Genome Resources | ||||
paroxysmal nonkinesigenic dyskinesia 3 | KCNMA1* | Kcnma1 | Alliance of Genome Resources | ||||
sepiapterin reductase deficiency | SPR* | Spr | Alliance of Genome Resources | ||||
torsion dystonia 2 | HPCA* | Hpca | Alliance of Genome Resources | ||||
torsion dystonia 4 | TUBB4A* | Tubb4a | Alliance of Genome Resources | ||||
X-linked dystonia-parkinsonism | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
paroxysmal nonkinesigenic dyskinesia 1 | Tg(Pnkd*A7V*A9V,-DsRed)671Ljp | 1 model | |
paroxysmal nonkinesigenic dyskinesia 1 | Tg(Pnkd*A7V*A9V,-DsRed)704Ljp | 1 model | |
torsion dystonia 1 | Tg(CMV-TOR1A*)2Nush | 1 model | |
torsion dystonia 1 | Tg(CMV-TOR1A*)1Nush | 1 model | |
torsion dystonia 1 | Tg(Eno2-TOR1A*)13Shas | 1 model |