| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | ataxia telangiectasia | ATM* | Atm* | 9 models | Alliance of Genome Resources | ||
| autosomal recessive spinocerebellar ataxia 12 | WWOX* | Wwox* | 1 model | Alliance of Genome Resources | |||
| autosomal recessive spinocerebellar ataxia 13 | GRM1* | Grm1* | 1 model | Alliance of Genome Resources | |||
| autosomal recessive spinocerebellar ataxia 16 | STUB1* | Stub1* | 1 model | Alliance of Genome Resources | |||
| autosomal recessive spinocerebellar ataxia 18 | GRID2* | Grid2* | 2 models | Alliance of Genome Resources | |||
| Cayman type cerebellar ataxia | ATCAY* | Atcay* | 3 models | Alliance of Genome Resources | |||
| cerebellar ataxia type 42 | CACNA1G* | Cacna1g* | 2 models | Alliance of Genome Resources | |||
| Charlevoix-Saguenay spastic ataxia | SACS* | Sacs* | 2 models | Alliance of Genome Resources | |||
| episodic ataxia type 1 | KCNA1* | Kcna1* | 1 model | Alliance of Genome Resources | |||
| episodic ataxia type 2 | CACNA1A* | Cacna1a* | 3 models | Alliance of Genome Resources | |||
| fragile X-associated tremor/ataxia syndrome | FMR1* | Fmr1* | 1 model | Alliance of Genome Resources | |||
| Friedreich ataxia | FXN* | Fxn* | 8 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 1 | ATXN1* | Atxn1* | 1 model | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 14 | PRKCG* | Prkcg* | 2 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 17 | TBP* | Tbp* | 1 model | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 2 | ATXN2* | Atxn2* | 1 model | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 28 | AFG3L2* | Afg3l2* | 1 model | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 5 | SPTBN2* | Sptbn2* | 2 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 6 | CACNA1A* | Cacna1a* | 3 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 7 | ATXN7* | Atxn7* | 5 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia with axonal neuropathy 1 | TDP1* | Tdp1* | 1 model | Alliance of Genome Resources | |||
| | cerebellar ataxia | CACNA1A | Cacna1a* | 1 model | Alliance of Genome Resources | ||
| Charlevoix-Saguenay spastic ataxia | ANKFY1 | Ankfy1* | 1 model | Alliance of Genome Resources | |||
| hereditary ataxia | SCYL1 | Scyl1* | 1 model | Alliance of Genome Resources | |||
| hereditary ataxia | RNF170 | Rnf170* | 1 model | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 27 | FGF14 | Fgf14* | 1 model | Alliance of Genome Resources | |||
| | ataxia-oculomotor apraxia type 4 | PNKP* | Pnkp | Alliance of Genome Resources | |||
| ataxia telangiectasia | BAK1* | Bak1 | Alliance of Genome Resources | ||||
| ataxia telangiectasia | IL2* | Il2 | Alliance of Genome Resources | ||||
| ataxia telangiectasia | IFNG* | Ifng | Alliance of Genome Resources | ||||
| ataxia telangiectasia | BAX* | Bax | Alliance of Genome Resources | ||||
| ataxia telangiectasia | BIK* | Bik | Alliance of Genome Resources | ||||
| ataxia telangiectasia | HDAC4* | Hdac4 | Alliance of Genome Resources | ||||
| ataxia-telangiectasia-like disorder-1 | MRE11* | Mre11a | Alliance of Genome Resources | ||||
| ataxia-telangiectasia-like disorder-2 | PCNA* | Pcna | Alliance of Genome Resources | ||||
| ataxia with oculomotor apraxia type 1 | APTX* | Aptx | Alliance of Genome Resources | ||||
| ataxia with oculomotor apraxia type 3 | PIK3R5* | Pik3r5 | Alliance of Genome Resources | ||||
| autosomal dominant cerebellar ataxia | FGF14* | Fgf14 | Alliance of Genome Resources | ||||
| autosomal dominant cerebellar ataxia | SAMD9L* | Samd9l | Alliance of Genome Resources | ||||
| autosomal dominant cerebellar ataxia | NPTX1* | Nptx1 | Alliance of Genome Resources | ||||
| autosomal dominant cerebellar ataxia, deafness and narcolepsy | DNMT1* | Dnmt1 | Alliance of Genome Resources | ||||
| autosomal dominant sensory ataxia 1 | RNF170* | Rnf170 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 10 | ANO10* | Ano10 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 11 | SYT14* | Syt14 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 14 | SPTBN2* | Sptbn2 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 15 | RUBCN* | Rubcn | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 17 | CWF19L1* | Cwf19l1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 19 | SLC9A1* | Slc9a1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 2 | PMPCA* | Pmpca | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 20 | SNX14* | Snx14 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 21 | SCYL1* | Scyl1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 22 | VWA3B* | Vwa3b | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 23 | TDP2* | Tdp2 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 24 | UBA5* | Uba5 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 25 | ATG5* | Atg5 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 26 | XRCC1* | Xrcc1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 27 | GDAP2* | Gdap2 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 28 | THG1L* | Thg1l | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 29 | VPS41* | Vps41 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 30 | PITRM1* | Pitrm1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 31 | ATG7* | Atg7 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 32 | PRDX3* | Prdx3 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 33 | RNU12* | ||||||
| autosomal recessive spinocerebellar ataxia 4 | VPS13D* | Vps13d | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 7 | TPP1* | Tpp1 | Alliance of Genome Resources | ||||
| autosomal recessive spinocerebellar ataxia 8 | SYNE1* | Syne1 | Alliance of Genome Resources | ||||
| cerebellar ataxia | POLG* | Polg | Alliance of Genome Resources | ||||
| cerebellar ataxia | L2HGDH* | L2hgdh | Alliance of Genome Resources | ||||
| cerebellar ataxia | ATCAY* | Atcay | Alliance of Genome Resources | ||||
| cerebellar ataxia | SYNE1* | Syne1 | Alliance of Genome Resources | ||||
| cerebellar ataxia | RPGRIP1L* | Rpgrip1l | Alliance of Genome Resources | ||||
| cerebellar ataxia type 41 | TRPC3* | Trpc3 | Alliance of Genome Resources | ||||
| cerebellar ataxia type 43 | MME* | Mme | Alliance of Genome Resources | ||||
| cerebellar ataxia type 47 | PUM1* | Pum1 | Alliance of Genome Resources | ||||
| cerebellar ataxia type 48 | STUB1* | Stub1 | Alliance of Genome Resources | ||||
| dentatorubral-pallidoluysian atrophy | ATN1* | Atn1 | Alliance of Genome Resources | ||||
| episodic ataxia | CACNB4* | Cacnb4 | Alliance of Genome Resources | ||||
| episodic ataxia type 5 | CACNB4* | Cacnb4 | Alliance of Genome Resources | ||||
| episodic ataxia type 6 | SLC1A3* | Slc1a3 | Alliance of Genome Resources | ||||
| episodic ataxia type 9 | SCN2A* | Scn2a | Alliance of Genome Resources | ||||
| Friedreich ataxia | AGTR1* | Agtr1a, Agtr1b | Alliance of Genome Resources | ||||
| Friedreich ataxia | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
| Friedreich ataxia 1 | FXN* | Fxn | Alliance of Genome Resources | ||||
| Machado-Joseph disease | ATXN3* | Atxn3 | 1 model | Alliance of Genome Resources | |||
| Machado-Joseph disease | BECN1* | Becn1 | Alliance of Genome Resources | ||||
| nonprogressive cerebellar ataxia with mental retardation | CAMTA1* | Camta1 | Alliance of Genome Resources | ||||
| spastic ataxia | COQ4* | Coq4 | Alliance of Genome Resources | ||||
| spastic ataxia | AFG3L2* | Afg3l2 | Alliance of Genome Resources | ||||
| spastic ataxia | CHP1* | Chp1 | Alliance of Genome Resources | ||||
| spastic ataxia 1 | VAMP1* | Vamp1 | Alliance of Genome Resources | ||||
| spastic ataxia 2 | KIF1C* | Kif1c | Alliance of Genome Resources | ||||
| spastic ataxia 3 | MARS2* | Mars2 | Alliance of Genome Resources | ||||
| spastic ataxia 4 | MTPAP* | Mtpap | Alliance of Genome Resources | ||||
| spastic ataxia 5 | AFG3L2* | Afg3l2 | Alliance of Genome Resources | ||||
| spastic ataxia 8 | NKX6-2* | Nkx6-2 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia 44 | GRM1* | Grm1 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia 45 | FAT2* | Fat2 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia 46 | PLD3* | Pld3 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 10 | ATXN10* | Atxn10 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 11 | TTBK2* | Ttbk2 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 12 | PPP2R2B* | Ppp2r2b | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 13 | KCNC3* | Kcnc3 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 15 | ITPR1* | Itpr1 | 2 models | Alliance of Genome Resources | |||
| spinocerebellar ataxia type 19/22 | KCND3* | Kcnd3 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 21 | TMEM240* | Tmem240 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 23 | PDYN* | Pdyn | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 25 | PNPT1* | Pnpt1 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 26 | EEF2* | Eef2 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 29 | ITPR1* | Itpr1 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 31 | BEAN1* | Bean1 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 34 | ELOVL4* | Elovl4 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 35 | TGM6* | Tgm6 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 36 | NOP56* | Nop56 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 37 | DAB1* | Dab1 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 38 | ELOVL5* | Elovl5 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 4 | ZFHX3* | Zfhx3 | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 40 | CCDC88C* | Ccdc88c | Alliance of Genome Resources | ||||
| spinocerebellar ataxia type 8 | ATXN8OS* | ||||||
| spinocerebellar ataxia type 8 | ATXN8* | ||||||
| spinocerebellar ataxia with axonal neuropathy 2 | SETX* | Setx | Alliance of Genome Resources | ||||
| spinocerebellar ataxia with axonal neuropathy type 3 | COA7* | Coa7 | Alliance of Genome Resources | ||||
| X-linked spinocerebellar ataxia 1 | ATP2B3* | Atp2b3 | Alliance of Genome Resources | ||||
Excel File
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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 | |
| dentatorubral-pallidoluysian atrophy | Tg(Eno2-ATN1)14Tx | 1 model | |
| dentatorubral-pallidoluysian atrophy | Tg(ATN1*)Q129Stsu | 1 model | |
| dentatorubral-pallidoluysian atrophy | Tg(Eno2-ATN1)3Tx | 1 model | |
| dentatorubral-pallidoluysian atrophy | Tg(Prnp-ATN1)124Dbo | 1 model | |
| dentatorubral-pallidoluysian atrophy | Tg(Prnp-ATN1)150Dbo | 1 model | |
| fragile X-associated tremor/ataxia syndrome | Tg(Pcp2-FMR1*)1Dln | 1 model | |
| fragile X-associated tremor/ataxia syndrome | Tg(tetO-FMR1*,-EGFP)#Rkhu | 2 models | |
| Machado-Joseph disease | Tg(ATXN3*)67.2Cce | 2 models | |
| Machado-Joseph disease | Tg(ATXN3*)84.2Cce | 3 models | |
| Machado-Joseph disease | Tg(CMV-ATXN3*94Q)94Pama | 2 models | |
| Machado-Joseph disease | Tg(CMV-ATXN3*135Q)CPama | 1 model | |
| Machado-Joseph disease | Tg(Htt-ATXN3*148Q)3746Thsc | 1 model | |
| Machado-Joseph disease | Tg(Pcp2-ATXN3*69Q)bHirai | 1 model | |
| Machado-Joseph disease | Tg(Prnp-ATXN3*70Q)70.61Olri | 1 model | |
| Machado-Joseph disease | Tg(Prnp-ATXN3*79Q)#Hlw | 1 model | |
| Machado-Joseph disease | Tg(Prnp-ATXN3*148Q)148.19Olri | 1 model | |
| Machado-Joseph disease | Tg(Prnp-ATXN3*148Q)NLS.28Olri | 1 model | |
| spinocerebellar ataxia type 1 | Tg(tetO-ATXN1*82Q)#Horr | 1 model | |
| spinocerebellar ataxia type 1 | Tg(Pcp2-ATXN1*82Q)5Horr | 1 model | |
| spinocerebellar ataxia type 10 | Tg(Prnp-lacZ/ATXN10*)#Teas | 1 model | |
| spinocerebellar ataxia type 14 | Tg(tetO-PRKCG*S361G,-GFP)3Jpka | 1 model | |
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)105Xjl | 1 model | |
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)71-27Xjl | 1 model | |
| spinocerebellar ataxia type 17 | Tg(Pcp2-TBP*)69Hmhl | 1 model | |
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)71-16Xjl | 1 model | |
| spinocerebellar ataxia type 2 | Tg(ATXN2*72Q)#Plt | 1 model | |
| spinocerebellar ataxia type 2 | Tg(Pcp2-ATXN2*127Q)#Plt | 1 model | |
| spinocerebellar ataxia type 5 | Tg(tetO-SPTBN2*)#Lpwr | 1 model | |
| spinocerebellar ataxia type 7 | Tg(GFAP-ATXN7*92Q)2521Als | 1 model | |
| spinocerebellar ataxia type 7 | Tg(RHO-SCA7)R7EJman | 1 model | |
| spinocerebellar ataxia type 7 | Tg(Prnp-ATXN7*92Q)6076Als | 1 model | |
| spinocerebellar ataxia type 7 | Tg(Prnp-ATXN7*92Q)1963Als | 1 model | |
| spinocerebellar ataxia type 7 | Tg(Pcp2-SCA7)P7EJman | 1 model | |
| spinocerebellar ataxia type 7 | Tg(GFAP-ATXN7*92Q)2542Als | 1 model | |