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All mouse models of X-linked dominant disease with phenotypic similarity to the human disease
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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
  | alpha thalassemia-X-linked intellectual disability syndrome |
Atrxtm1Rjg/Y Foxg1tm1(cre)Skm/Foxg1+ |
involves: 129P2/OlaHsd * C57BL/6 * FVB/N | J:95953 | View | |||
| alpha thalassemia-X-linked intellectual disability syndrome |
Atrxtm1Rjg/Y Tg(Nes-cre)2472Pick/0 |
involves: 129P2/OlaHsd * C57BL/6 * FVB/N | J:95953 | View | ||||
| alpha thalassemia-X-linked intellectual disability syndrome |
Atrxtm1Rjg/Y Tg(Pax6-cre,GFP)2Pgr/0 |
involves: 129P2/OlaHsd * C57BL/6 * FVB/N | J:145002 | View | ||||
| amelogenesis imperfecta type 1E | AmelxRgsc888/Amelx+ | involves: C57BL/6JJcl * DBA/2J | J:157947 | View | ||||
| amelogenesis imperfecta type 1E | AmelxRgsc888/AmelxRgsc888 | involves: C57BL/6JJcl * DBA/2J | J:157947 | View | ||||
| amelogenesis imperfecta type 1E | AmelxRgsc888/Y | involves: C57BL/6JJcl * DBA/2J | J:157947 | View | ||||
| amelogenesis imperfecta type 1E | Amelxtm1Kul/Amelxtm1Kul | involves: 129S1/Sv * 129X1/SvJ * C57BL/6 | J:71126 | View | ||||
| amelogenesis imperfecta type 1E |
Amelxtm1Kul/Amelxtm1Kul Tg(AMELX*P70T)2Gibs/? |
involves: 129S1/Sv * 129X1/SvJ | J:122914 | View | ||||
| amelogenesis imperfecta type 1E | Tg(AMELX*P70T)2Gibs/? | Not Specified | J:122914 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | Gjb1tm1Kwi/Gjb1tm1Kwi | involves: 129S4/SvJae | J:40955 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | Gjb1tm1Kwi/Gjb1tm1Kwi | involves: 129S4/SvJae * C57BL/6 | J:36146 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | Gjb1tm1Kwi/Y | involves: 129S4/SvJae | J:40955 | View | ||||
| Charcot-Marie-Tooth disease X-linked dominant 1 | Gjb1tm1Kwi/Y | involves: 129S4/SvJae * C57BL/6 | J:36146 | View | ||||
| Christianson syndrome | Slc9a6tm1Dgen/Slc9a6+ | B6.129P2-Slc9a6tm1Dgen/J | J:229166 | View | ||||
| Christianson syndrome | Slc9a6tm1Dgen/Slc9a6tm1Dgen | B6.129P2-Slc9a6tm1Dgen/J | J:241124 | View | ||||
| Christianson syndrome | Slc9a6tm1Dgen/Y | B6.129P2-Slc9a6tm1Dgen/J | J:241124, J:229166, J:262453 | View | ||||
| Coffin-Lowry syndrome | Rps6ka3tm1.1Kry/Rps6ka3+ | involves: 129X1/SvJ | J:89403 | View | ||||
| Coffin-Lowry syndrome | Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry | B6.129X1(Cg)-Rps6ka3tm1.1Kry | J:201540 | View | ||||
| Coffin-Lowry syndrome | Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry | involves: 129X1/SvJ | J:89403 | View | ||||
| Coffin-Lowry syndrome | Rps6ka3tm1.1Kry/Y | involves: 129X1/SvJ | J:89403, J:211945 | View | ||||
| Coffin-Lowry syndrome | Rps6ka3tm1Ljg/Y | involves: 129 * C57BL/6 | J:67575, J:83536 | View | ||||
| Cornelia de Lange syndrome 5 | Hdac8tm1.2Eno/Y | involves: 129S6/SvEvTac * C57BL/6J | J:297059 | View | ||||
| craniofrontonasal syndrome | Efnb1tm1.1Sor/Efnb1+ | involves: 129S4/SvJaeSor * C57BL/6 | J:115952 | View | ||||
| Danon disease | Lamp2tm1.2Ces/Y | involves: 129 * 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * SJL | J:328713 | View | ||||
| Danon disease | Lamp2tm1Psa/Lamp2tm1Psa | either: (involves: 129P2/OlaHsd * 129/Sv * C57BL/6J) or (involves: 129P2/OlaHsd * 129/Sv) | J:64151 | View | ||||
| Danon disease | Lamp2tm1Psa/Lamp2tm1Psa | involves: 129P2/OlaHsd | J:253728 | View | ||||
| developmental and epileptic encephalopathy 2 | Cdkl5tm1.2Cogr/Cdkl5tm1.2Cogr | involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJaeSor * C57BL/6J | J:209635 | View | ||||
| developmental and epileptic encephalopathy 2 | Cdkl5tm1.2Cogr/Y | involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJaeSor * C57BL/6J | J:209635 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Lcm/Porcn+ Edil3Tg(Sox2-cre)1Amc/Edil3+ |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA | J:173672 | View | ||||
| focal dermal hypoplasia | Porcntm1.1Lcm/Porcntm1.2Lcm | involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 | J:218165 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Lcm/Porcntm1.2Lcm Tg(Six3-cre)69Frty/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2 | J:218165 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Lcm/Y H2az2Tg(Wnt1-cre)11Rth/H2az2+ |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1 | J:218165 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Lcm/Y H2az2Tg(Wnt1-cre)11Rth/H2az2+ Tg(rx3-icre)1Mjam/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1 | J:218165 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Lcm/Y Tg(rx3-icre)1Mjam/0 |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 | J:218165 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Vdv/Porcn+ Hprt1tm1(CAG-cre)Mnn/Hprt1+ |
involves: 129S/Sv * C57BL/6J | J:186934 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Vdv/Porcn+ Tg(EIIa-cre)C5379Lmgd/0 |
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N | J:186934 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Vdv/Y Tg(EIIa-cre)C5379Lmgd/0 |
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N | J:186934 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Vdv/Y Tg(KRT14-cre)1Efu/0 |
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J | J:186934 | View | ||||
| focal dermal hypoplasia |
Porcntm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0 |
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J | J:186934 | View | ||||
| focal dermal hypoplasia | Porcntm1.2Lcm/Porcntm1.2Lcm | involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2 | J:218165 | View | ||||
| focal dermal hypoplasia | Porcntm1Vdv/Porcn+ | chimera involves: 129S5/SvEvBrd * C57BL/6J | J:186934 | View | ||||
| focal dermal hypoplasia | Porcntm1Vdv/Y | chimera involves: 129S5/SvEvBrd * C57BL/6J | J:186934 | View | ||||
| fragile X syndrome |
Fmr1tm1.1Cidz/Fmr1tm1.1Cidz Tg(Pcp2-cre)2Mpin/0 |
involves: 129S1/Sv * 129X1/SvJ | J:101021 | View | ||||
| fragile X syndrome | Fmr1tm1.1Ics/Fmr1tm1.1Ics | C57BL/6-Fmr1tm1.1Ics | J:304982 | View | ||||
| fragile X syndrome | Fmr1tm1.2Cidz/Y | involves: 129P2/OlaHsd * 129/Sv * C57BL/6 * FVB/N | J:176553 | View | ||||
| fragile X syndrome | Fmr1tm1Cgr/Fmr1tm1Cgr | involves: 129P2/OlaHsd | J:101021 | View | ||||
| fragile X syndrome | Fmr1tm1Cgr/Fmr1tm1Cgr | involves: 129P2/OlaHsd * C57BL/6J | J:19220 | View | ||||
| fragile X syndrome | Fmr1tm1Cgr/Y | involves: 129P2/OlaHsd | J:34449, J:101021 | View | ||||
| fragile X syndrome | Fmr1tm1Cgr/Y | involves: 129P2/OlaHsd * C57BL/6J | J:19220, J:221083 | View | ||||
| fragile X syndrome | Fmr1tm1Rbd/Y | B6.129-Fmr1tm1Rbd | J:155593 | View | ||||
| fragile X syndrome | Fmr1tm1Usdn/Fmr1tm1Usdn | B6.129S6(Cg)-Fmr1tm1Usdn | J:196840 | View | ||||
| fragile X syndrome | Fmr1tm1Usdn/Y | involves: 129S6/SvEvTac * C57BL/6 | J:170720 | View | ||||
| Nance-Horan syndrome | NhsXcat/Nhs+ | involves: DBA/2 * T STOCK | J:19674, J:89306 | View | ||||
| Nance-Horan syndrome | NhsXcat/NhsXcat | involves: DBA/2 * T STOCK | J:19674, J:89306 | View | ||||
| Nance-Horan syndrome | NhsXcat/Y | involves: DBA/2 * T STOCK | J:19674, J:89306 | View | ||||
| neurodegeneration with brain iron accumulation 5 | Wdr45em1Wrst/Wdr45em1Wrst | involves: C57BL/6N * FVB | J:307284 | View | ||||
| neurodegeneration with brain iron accumulation 5 | Wdr45em1Wrst/Y | involves: C57BL/6N * FVB | J:307284 | View | ||||
| non-syndromic X-linked intellectual disability 98 | Nexmiftm1(KOMP)Wtsi/Y | B6J.B6N-Nexmiftm1(KOMP)Wtsi | J:283395 | View | ||||
| orofaciodigital syndrome I |
Ofd1tm2.1Bfra/Ofd1+ Tg(CAG-cre)1Nagy/0 |
involves: 129S2/SvPas | J:106035 | View | ||||
| orofaciodigital syndrome I |
Ofd1tm2.1Bfra/Y Tg(CAG-cre)1Nagy/0 |
involves: 129S2/SvPas | J:106035 | View | ||||
| syndromic microphthalmia 2 |
Bcortm1.1Vjba/Bcor+ Tmem163Tg(ACTB-cre)2Mrt/Tmem163+ |
involves: 129S1/Sv * C57BL/6N * FVB/N | J:296645 | View | ||||
| X-linked Alport syndrome | Col4a5em1Keha/Y | C57BL/6J-Col4a5em1Keha | J:283613 | View | ||||
| X-linked Alport syndrome | Col4a5tm1Yseg/Col4a5+ | B6.Cg-Col4a5tm1Yseg | J:102306, J:210414 | View | ||||
| X-linked Alport syndrome | Col4a5tm1Yseg/Y | B6.Cg-Col4a5tm1Yseg | J:102306, J:210414 | View | ||||
| X-linked dominant hypophosphatemic rickets |
Fgf23tm1Blan/Fgf23+ PhexHyp/Y |
Not Specified | J:94041 | View | ||||
| X-linked dominant hypophosphatemic rickets |
Fgf23tm1Sliu/Fgf23+ PhexHyp/Y |
involves: 129S/SvEv * C57BL/6 | J:110579 | View | ||||
| X-linked dominant hypophosphatemic rickets |
Fgf23tm1Sliu/Fgf23tm1Sliu PhexHyp/Y |
involves: 129S/SvEv * C57BL/6 | J:110579 | View | ||||
| X-linked dominant hypophosphatemic rickets | Gy/Y | involves: C3H/Sn * C57BL/6Ei | J:38621, J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp-2J/Phex+ | C57BL/6-PhexHyp-2J/J | J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp-2J/Y | C57BL/6-PhexHyp-2J/J | J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp-Duk/Phex+ | involves: BALB/cAnBomUrd | J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp-Duk/Y | involves: BALB/cAnBomUrd | J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp/? | involves: C57BL/6J | J:99866 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp/Phex+ | B6.Cg-PhexHyp/J | J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexHyp/Y | B6.Cg-PhexHyp/J | J:38621, J:67356, J:88352 | View | ||||
| X-linked dominant hypophosphatemic rickets | Phexm1Jrt/Phex+ | B6.129S1-PhexM1Jrt | J:196537 | View | ||||
| X-linked dominant hypophosphatemic rickets | Phexm1Jrt/Y | B6.129S1-PhexM1Jrt | J:196537 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexMhdabap012/PhexMhdabap012 | C3HeB/FeJ-PhexMhdabap012 | J:183993 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexMhdabap024/Phex+ | C3HeB/FeJ-PhexMhdabap024 | J:264682 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexMhdabap024/PhexMhdabap024 | C3HeB/FeJ-PhexMhdabap024 | J:183993 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexMhdabap024/Y | C3HeB/FeJ-PhexMhdabap024 | J:264682 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexPug/Y | involves: C57BL/6J | J:136463 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexSka1/Phex+ | C57BL/6-PhexSka1 | J:79953 | View | ||||
| X-linked dominant hypophosphatemic rickets | PhexSka1/Y | C57BL/6-PhexSka1 | J:79953 | View | ||||
| Transgenes and Other Mutations | X-linked dominant hypophosphatemic rickets | Tg(APOE-FGF23*R176Q)#Ack/0 | involves: C57BL/6J * CBA | J:93981 | View | |||
| X-linked dominant hypophosphatemic rickets | Tg(Col1a1-FGF2*,-Sapphire)203Mmh/Tg(Col1a1-FGF2*,-Sapphire)203Mmh | involves: FVB/N | J:240777 | 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 | amelogenesis imperfecta type 1E | Tg(Amelx)42Msnd/Tg(Amelx)42Msnd | involves: C57BL/6J * CBA/J * DBA/2J | J:100004 | View | |||