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All mouse models of polygenic disease with phenotypic similarity to the human disease
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
  | acrocallosal syndrome | Kif7b2b2254Clo/Kif7b2b2254Clo | C57BL/6J-Kif7b2b2254Clo | J:175213 | View | |||
| autosomal recessive nonsyndromic deafness 1A | Del(14Gjb6-Cryl1)1Lmon/Del(14Gjb6-Cryl1)1Lmon | C57BL/6JOlaHsd-Del(14Gjb6-Cryl1)1Lmon/Lmon | J:345081 | View | ||||
| autosomal recessive nonsyndromic deafness 1A |
Gjb2tm1Ugds/Gjb2tm1Ugds Tg(Otog-cre)1Ugds/0 |
involves: 129P2/OlaHsd * C57BL/6 | J:77823 | View | ||||
| autosomal recessive nonsyndromic deafness 1A |
Gjb2tm1Ugds/Gjb2tm1Ugds Tg(Sox10-cre)1Wdr/0 |
involves: 129P2/OlaHsd * C57BL/6 * CBA | J:206835 | View | ||||
| autosomal recessive nonsyndromic deafness 1A | Gjb6tm1.1Fama/Gjb6tm1.1Fama | involves: 129P2/OlaHsd * C57BL/6 * SJL | J:166362 | View | ||||
| autosomal recessive nonsyndromic deafness 1A | Gjb6tm1Kwi/Gjb6tm1Kwi | involves: 129P2/OlaHsd * C57BL/6 | J:80917 | View | ||||
| dyskeratosis congenita | Dkc1tm1.1Pjma/Y | B6.129X1(FVB)-Dkc1tm1.1Pjma | J:217050 | View | ||||
| dyskeratosis congenita | Dkc1tm1Ppp/Dkc1+ | involves: 129S1/Sv | J:81054 | View | ||||
| dyskeratosis congenita | Dkc1tm1Ppp/Y | involves: 129S1/Sv | J:81054 | View | ||||
| hereditary coproporphyria | Cpoxnct/Cpoxnct | involves: BALB/cCrSlc | J:196645 | View | ||||
| hereditary coproporphyria | CpoxRbc16/Cpox+ | involves: C57BL/6 | J:244493 | View | ||||
| hereditary hypophosphatemic rickets with hypercalciuria | Slc34a1tm1Hten/Slc34a1tm1Hten | involves: 129S2/SvPas * C57BL/6J | J:47637 | View | ||||
| hereditary hypophosphatemic rickets with hypercalciuria |
Slc34a1tm1Hten/Slc34a1tm1Hten Slc34a3tm1Kimi/Slc34a3tm1Kimi |
B6.129-Slc34a3tm1Kimi Slc34a1tm1Hten | J:152195 | View | ||||
| long QT syndrome 1 | Kcnq1tm3Kpfe/Kcnq1+ | involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N | J:93197 | View | ||||
| long QT syndrome 3 | Scn5atm1.1Iba/Scn5a+ | involves: 129 * C57BL/6 | J:266290 | View | ||||
| long QT syndrome 3 | Scn5atm1Care/Scn5a+ | FVB.129P2-Scn5atm1Care/Care | J:128657 | View | ||||
| long QT syndrome 3 | Scn5atm1Clhh/Scn5a+ | involves: 129/SvEv | J:186583 | View | ||||
| long QT syndrome 3 | Scn5atm1Pec/Scn5a+ | involves: Swiss | J:71542 | View | ||||
| methylmalonic aciduria and homocystinuria type cblC | MmachcGt(AZ0348)Wtsi/Mmachc+ | involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 | J:212387 | View | ||||
| Parkinson's disease 6 | Pink1tm1.1Wrst/Pink1tm1.1Wrst | involves: 129S2/SvPas * BALB/cJ * C57BL/6J | J:183290 | View | ||||
| Parkinson's disease 6 | Pink1tm1Aub/Pink1tm1Aub | involves: 129S/SvEv | J:150206 | View | ||||
| Parkinson's disease 6 | Pink1tm1Hbu/Pink1tm1Hbu | involves: 129S7/SvEvBrd * C57BL/6 | J:169471 | View | ||||
| Parkinson's disease 6 | Pink1tm1Shn/Pink1tm1Shn | involves: 129S4/SvJae * C57BL/6 | J:122728 | View | ||||
| primary pulmonary hypertension |
Bmpr2tm1.1Enl/Bmpr2tm1.1Enl Tg(Acvrl1-cre)L1Spo/0 |
involves: 129S4/SvJae * FVB | J:158116 | View | ||||
| primary pulmonary hypertension | Bmpr2tm1Kmi/Bmpr2+ | involves: 129S4/SvJae * C57BL/6J | J:117167 | View | ||||
| primary pulmonary hypertension | Bmpr2tm1Mmue/Bmpr2+ | B6.129S1-Bmpr2tm1Mmue | J:224752 | View | ||||
| primary pulmonary hypertension | Smad9tm3Jfm/Smad9tm3Jfm | involves: 129S4/SvJaeSor | J:150213 | View | ||||
| primary pulmonary hypertension |
Tg(Tagln-rtTA)E1Jwst/0 Tg(tetO-Bmpr2*R899X)#Jwst/0 |
involves: FVB/N | J:164503 | View | ||||
| retinitis pigmentosa 7 | Prph2Rd2/Prph2+ | either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A) | J:25582 | View | ||||
| retinitis pigmentosa 7 | Prph2tm1Nmc/Prph2+ | involves: 129S1/Sv * 129X1/SvJ | J:76490 | View | ||||
| retinitis pigmentosa 7 | Prph2tm1Nmc/Prph2tm1Nmc | involves: 129S1/Sv * 129X1/SvJ | J:76490 | View | ||||
| short-rib thoracic dysplasia 7 with or without polydactyly | Wdr35yeti/Wdr35yeti | Not Specified | J:171617 | View | ||||
| spinocerebellar ataxia type 17 |
Tbptm1Xjl/Tbp+ Tg(CAG-cre/Esr1*)5Amc/0 |
involves: 129S/SvEv * C57BL/6 * CBA | J:213011 | View | ||||
| Usher syndrome type 1D | Cdh23v-2J/Cdh23v-2J | B6(V)-Cdh23v-2J/J | J:66698 | View | ||||
| Usher syndrome type 1D | Cdh23v-3J/Cdh23+ | C57BL/6J-Cdh23v-3J | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-4J/Cdh23v-4J | involves: C57BLKS/J | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-5J/Cdh23v-5J | involves: SENCARA/PtJ | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-6J/Cdh23v-6J | B10.A-H2h4/(4R)SgDvEgJ-Cdh23v-6J/J | J:66698 | View | ||||
| Usher syndrome type 1D | Cdh23v-7J/Cdh23v-7J | CByJ(Cg)-Cdh23v-7J/GrsrJ | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-Alb/Cdh23v-Alb | involves: C3H/HeJ * C57BL/6 | J:66698 | View | ||||
| Usher syndrome type 1D | Cdh23v-bus/Cdh23v-bus | involves: KYF/MsIdr | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-J/Cdh23v-J | B6.C-H2-Kbm1/ByJ | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v-ngt/Cdh23v-ngt | involves: ICR * MSM | J:174130 | View | ||||
| Usher syndrome type 1D | Cdh23v/Cdh23v | involves: fancier's stocks | J:174130 | View | ||||
| Usher syndrome type 2C | Adgrv1m1/Adgrv1m1 | CBACa.KM-Adgrv1m1 | J:273686 | View | ||||
| Usher syndrome type 2C | Adgrv1tm1Msat/Adgrv1tm1Msat | involves: 129P2/OlaHsd * C57BL/6J | J:122415 | View | ||||
| Usher syndrome type 2C | Adgrv1tm1Pwh/Adgrv1tm1Pwh | involves: 129S1/Sv * C57BL/6J | J:109595 | View | ||||
| Waardenburg syndrome type 2A |
Mitfmi-bw/Mitfmi-bw Tg(Dct-lacZ)A12Jkn/0 |
involves: C3H * C57BL/6 * C57BL/6J * CBA | J:213982 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-Crc/MitfMi-Crc | involves: CBA/CaCrc | J:83500 | View | ||||
| Waardenburg syndrome type 2A | Mitfmi-enu122/Mitf+ | involves: 102 * C3H | J:46254 | View | ||||
| Waardenburg syndrome type 2A | Mitfmi-enu122/Mitfmi-enu122 | involves: 102 * C3H | J:46254 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-H/Mitf+ | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-H/MitfMi-H | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-H/MitfRorp | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-wh/Mitf+ | involves: C57BL * DBA | J:13058 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-wh/MitfMi-wh | involves: C57BL * DBA | J:13058 | View | ||||
| Waardenburg syndrome type 2A | MitfMi-wh/Mitfmi-x | involves: NZB/Mac | J:83501 | View | ||||
| Waardenburg syndrome type 2A | Mitfmi-x/Mitfmi-x | involves: NZB/Mac | J:83501 | View | ||||
| Waardenburg syndrome type 2A | MitfMi/MitfMi | Not Specified | J:30758 | View | ||||
| Waardenburg syndrome type 2A | MitfRorp/Mitf+ | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| Waardenburg syndrome type 2A | MitfRorp/MitfRorp | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| | dyskeratosis congenita | Tinf2tm2.2Tdl/Tinf2+ | involves: BALB/cJ * C57BL/6 | J:207367 | View | |||
| dyskeratosis congenita | Trp53tm1.1Tldo/Trp53tm1.1Tldo | involves: 129S2/SvPas * BALB/c * C57BL/6 | J:199308 | View | ||||
| methylmalonic aciduria and homocystinuria type cblC | Thap11em1Poche/Thap11em1Poche | C57BL/6J-Thap11em1Poche | J:317822 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-Crc/Mitf+ | involves: CBA/CaCrc | J:83500 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-Crc/MitfMi-Crc | involves: CBA/CaCrc | J:83500 | View | ||||
| ocular albinism with sensorineural deafness | Mitfmi-enu122/Mitf+ | involves: 102 * C3H | J:46254 | View | ||||
| ocular albinism with sensorineural deafness | Mitfmi-enu122/Mitfmi-enu122 | involves: 102 * C3H | J:46254 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-H/Mitf+ | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-H/MitfMi-H | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-H/MitfRorp | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-wh/Mitf+ | involves: C57BL * DBA | J:13058 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-wh/MitfMi-wh | involves: C57BL * DBA | J:13058 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi-wh/Mitfmi-x | involves: NZB/Mac | J:83501 | View | ||||
| ocular albinism with sensorineural deafness | Mitfmi-x/Mitfmi-x | involves: NZB/Mac | J:83501 | View | ||||
| ocular albinism with sensorineural deafness | MitfMi/MitfMi | Not Specified | J:30758 | View | ||||
| ocular albinism with sensorineural deafness | MitfRorp/Mitf+ | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| ocular albinism with sensorineural deafness | MitfRorp/MitfRorp | involves: BALB/cAnN * C3H/HeN | J:75964 | View | ||||
| primary pulmonary hypertension | Adora2atm1Jfc/Adora2atm1Jfc | B6.129S4-Adora2atm1Jfc | J:194389 | View | ||||
| primary pulmonary hypertension |
Ppargtm2Rev/Ppargtm2Rev Tg(Tagln-cre)1Her/? |
involves: 129S4/SvJae * C57BL/6 * SJL | J:136168 | View | ||||
| primary pulmonary hypertension | Tg(Lck-Tnfsf4)1Nish/0 | B6.Cg-Tg(Lck-Tnfsf4)1Nish | J:194882 | View | ||||
| primary pulmonary hypertension | Viptm1Clw/Viptm1Clw | involves: 129S/Sv * C57BL/6 | J:132313 | View | ||||
| Usher syndrome type 2C | Slc4a7tm1Krtz/Slc4a7tm1Krtz | involves: 129S5/SvEvBrd * C57BL/6 | J:86635 | View | ||||
| Transgenes and Other Mutations | long QT syndrome 1 | Tg(Myh6-KCNQ1_i2)H02Desc/0 | involves: FVB | J:132483 | View | |||
| long QT syndrome 1 | Tg(Myh6-KCNQ1_i2)H05Desc/0 | involves: FVB | J:211437 | View | ||||
| primary pulmonary hypertension | Tg(Scgb1a1-IL6)9Flv/0 | involves: C57BL/6 * CBA | J:156430 | View | ||||
| primary pulmonary hypertension |
Tg(Tagln-rtTA)E1Jwst/0 Tg(tetO-BMPR2*T504)1Jwst/0 |
involves: FVB/N | J:98898 | View | ||||
| primary pulmonary hypertension | Tg(Tagln-SLC6A4)#Edd/? | Not Specified | J:144126 | View | ||||
| spinocerebellar ataxia type 17 | Tg(Pcp2-TBP*)69Hmhl/0 | involves: FVB/N | J:174239 | View | ||||
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)71-16Xjl/0 | FVB/N-Tg(Prnp-TBP*)71-16Xjl | J:130775 | View | ||||
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)71-27Xjl/0 | FVB/N-Tg(Prnp-TBP*)71-27Xjl | J:130775 | View | ||||
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)105Xjl/0 | FVB/N-Tg(Prnp-TBP*)105Xjl | J:130775 | View | ||||
| Additional Complex Models | dyskeratosis congenita |
Pot1btm1.1Schg/Pot1btm1.1Schg Terctm1Rdp/Terc+ |
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL | J:144553 | 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 | dyskeratosis congenita | Dkc1tm2Pjma/Y | chimera involves: 129X1/SvJ * C57BL/6J | J:149894 | View | |||
| dyskeratosis congenita | Dkc1tm3Pjma/Dkc1tm3Pjma | involves: 129X1/SvJ * C57BL/6J | J:149894 | View | ||||
| dyskeratosis congenita | Dkc1tm3Pjma/Y | involves: 129X1/SvJ * C57BL/6J | J:149894 | View | ||||
| spinocerebellar ataxia type 17 | Tg(Prnp-TBP*)13Xjl/0 | FVB/N-Tg(Prnp-TBP*)13Xjl | J:130775 | View | ||||