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All mouse models of mitochondrial metabolism disease with phenotypic similarity to the human disease
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
  | cytochrome-c oxidase deficiency disease |
Sco1tm1c(KOMP)Wtsi/Sco1tm1c(KOMP)Wtsi Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+ |
involves: C57BL/6 * C57BL/6N * DBA | J:222036 | View | |||
| cytochrome-c oxidase deficiency disease | Sco2tm1.1Easc/Sco2tm2.1Easc | 129X1/SvJ-Sco2tm1.1Easc/Sco2tm2.1Easc | J:155116 | View | ||||
| ethylmalonic encephalopathy | Ethe1tm1.1Zev/Ethe1tm1.1Zev | involves: 129S7/SvEvBrd * C57BL/6 | J:146537 | View | ||||
| GRACILE syndrome | Bcs1ltm1.1Levp/Bcs1ltm1.1Levp | involves: 129 * 129S6/SvEvTac * C57BL/6 | J:189652 | View | ||||
| Leigh disease | Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa | B6.129S4-Ndufs4tm1.1Rpa | J:190475 | View | ||||
| Leigh disease |
Ndufs4tm1Rpa/Ndufs4tm1Rpa Tg(Nes-cre)1Kln/0 |
B6.Cg-Tg(Nes-cre)1Kln Ndufs4tm1Rpa | J:190475 | View | ||||
| Leigh disease |
Ndufs4tm1Rpa/Ndufs4tm1Rpa Tg(Nes-cre)1Kln/0 |
involves: 129S4/SvJaeSor * C57BL/6 * SJL | J:161393 | View | ||||
| Leigh disease | Surf1tm1Zev/Surf1tm1Zev | involves: 129S7/SvEvBrd * C57BL/6J * DBA/2 | J:81773 | View | ||||
| mitochondrial complex III deficiency nuclear type 1 | Bcs1ltm1.1Levp/Bcs1ltm1.1Levp | B6.129-Bcs1ltm1.1Levp | J:273501 | View | ||||
| mitochondrial DNA depletion syndrome 2 | Tk2tm1Mihi/Tk2tm1Mihi | involves: 129S6/SvEv * C57BL/6J | J:139195, J:166725 | View | ||||
| mitochondrial DNA depletion syndrome 5 | Sucla2Gt(SAbetageo)1Bhg/Sucla2+ | involves: 129S6/SvEvTac * C57BL/6 | J:213453 | View | ||||
| nuclear type mitochondrial complex I deficiency 20 |
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi Tg(ACTA1-cre)79Jme/0 |
involves: C57BL/6J * C57BL/6N * FVB/N * SJL | J:326969 | View | ||||
| nuclear type mitochondrial complex I deficiency 20 |
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi Tg(Myh6-cre)2182Mds/0 |
involves: C57BL/6N * FVB/N | J:326969 | View | ||||
| primary coenzyme Q10 deficiency 4 | Coq8atm1.1Ics/Coq8atm1.1Ics | involves: 129S2/SvPas * C57BL/6J * C57BL/6N | J:249129 | View | ||||
| | coenzyme Q10 deficiency disease | Coq9tm1.1Lcl/Coq9tm1.1Lcl | involves: C57BL/6 * C57BL/6NTac * SJL | J:193288 | View | |||
| coenzyme Q10 deficiency disease | Pdss2kd/Pdss2kd | CBA/H-Pdss2kd | J:197578 | View | ||||
| combined oxidative phosphorylation deficiency | Mto1Gt(G019A03)Wrst/Mto1Gt(G019A03)Wrst | involves: 129S2/SvPas * C57BL/6J | J:223246 | View | ||||
| cytochrome-c oxidase deficiency disease |
Cox10tm1Ctm/Cox10tm1Ctm Tg(Camk2a-cre)#Szi/0 |
involves: 129X1/SvJ * C57BL/6 * C57BL/6J * CBA | J:188773 | View | ||||
| Leigh disease | Parltm1.1Bdes/Parltm1.1Bdes | involves: 129P2/OlaHsd | J:269785 | View | ||||
| Leigh disease |
Parltm1Bdes/Parltm1Bdes Tg(Nes-cre)1Kln/0 |
involves: 129P2/OlaHsd * C57BL/6 * SJL | J:269785 | View | ||||
| Leigh disease |
Sdhctm1c(EUCOMM)Wtsi/Sdhctm1c(EUCOMM)Wtsi Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+ |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N | J:284745 | View | ||||
| Leigh disease | Sod2tm1Cje/Sod2tm1Cje | involves: C57BL/6J | J:45913 | View | ||||
| mitochondrial complex I deficiency | Aifm1Hq/Aifm1Hq | B6CBACa Aw-J/A-Aifm1Hq/J | J:144096 | View | ||||
| mitochondrial complex I deficiency | Aifm1Hq/Y | B6CBACa Aw-J/A-Aifm1Hq/J | J:144096 | View | ||||
| mitochondrial complex I deficiency | Ndufa1tm1.1Nay/Ndufa1tm1.1Nay | involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac | J:257477 | View | ||||
| mitochondrial complex I deficiency | Ndufs4tm1Capt/Ndufs4+ | involves: 129S6/SvEvTac * C57BL/6NTac | J:192154 | View | ||||
| mitochondrial complex I deficiency | Ndufs6Gt(AR0138)Wtsi/Ndufs6Gt(AR0138)Wtsi | involves: 129P2/OlaHsd * C57BL/6 | J:183619 | View | ||||
| mitochondrial DNA depletion syndrome 3 | Mpv17/Mpv17 | CFW-Mpv17/J | J:143355 | View | ||||
| mitochondrial metabolism disease | mt-Tkm1 | involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj | J:206827 | View | ||||
| mitochondrial metabolism disease |
Uqcrfs1tm1Ctm/Uqcrfs1tm1Ctm Tg(Camk2a-cre)#Szi/0 |
involves: 129 * C57BL/6 * C57BL/6J * CBA | J:188773 | View | ||||
| | mitochondrial DNA depletion syndrome 1 |
Tymptm1Mihi/Tymptm1Mihi Upp1tm1Gp/Upp1tm1Gp |
involves: 129 * 129X1/SvJ * C57BL/6J | J:144245 | View | |||
| Additional Complex Models | mitochondrial metabolism disease |
mt-Nd6m1Jbst mt-Tam1Jbst |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrl | J:238994 | View | |||
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No similarity to the expected human disease phenotype was found.
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
| NOT Models | mitochondrial DNA depletion syndrome 1 | Tymptm1Akiy/Tymptm1Akiy | involves: 129X1/SvJ | J:78036 | View | |||
| mitochondrial DNA depletion syndrome 1 |
Tymptm1Akiy/Tymptm1Akiy Upp1tm1Akiy/Upp1tm1Akiy |
involves: 129X1/SvJ | J:78036 | View | ||||