Excel File Text File All mouse models of X-linked monogenic disease with phenotypic similarity to the human disease
        Disease Term Allelic Composition Genetic Background Reference Phenotypes
      adrenoleukodystrophy Abcd1tm1Kan/Abcd1tm1Kan involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:44812 View
adrenoleukodystrophy Abcd1tm1Kan/Y involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:44812 View
adrenoleukodystrophy Abcd1tm1Kan/Y
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor+
Cnptm1(cre)Kan/Cnp+
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J J:257393 View
adrenoleukodystrophy Abcd1tm1Kds/Abcd1tm1Kds either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6) J:42479 View
adrenoleukodystrophy Abcd1tm1Kds/Abcd1tm1Kds involves: 129/Sv * 129S4/SvJae * C57BL/6J J:75388 View
adrenoleukodystrophy Abcd1tm1Kds/Y either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6) J:42479 View
adrenoleukodystrophy Abcd1tm1Kds/Y involves: 129S4/SvJae * C57BL/6J J:94583 View
adrenoleukodystrophy Abcd1tm1Ymd/Abcd1tm1Ymd involves: 129S/SvEv * C57BL/6J * DBA/2J J:40230 View
adrenoleukodystrophy Abcd1tm1Ymd/Y involves: 129S/SvEv * C57BL/6J * DBA/2J J:40230 View
Allan-Herndon-Dudley syndrome Slc16a2tm1Dgen/Y either: (involves: C57BL/6N) or (involves: NMRI) J:120737 View
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
Barth syndrome Gt(ROSA)26Sortm37(H1/tetO-RNAi:Tafazzin)Arte/? Not Specified J:176041 View
Barth syndrome Gt(ROSA)26Sortm37(H1/tetO-RNAi:Tafazzin)Arte/Gt(ROSA)26Sor+ involves: 129S6/SvEvTac * C57BL/6J J:167527 View
Barth syndrome Tafazzinem1Xfa/Y
Tg(myl7.L-cre)1118Tmhn/0
involves: C57BL/6NCrl * MF1 J:339058 View
blue cone monochromacy Opn1mwtm1a(EUCOMM)Wtsi/Opn1mwtm1a(EUCOMM)Wtsi involves: C57BL/6J * C57BL/6N J:249371 View
Borjeson-Forssman-Lehmann syndrome Phf6em1Azbi/Y B6.Cg-Phf6em1Azbi J:271089 View
Borjeson-Forssman-Lehmann syndrome Phf6tm1.2Avo/Y involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N J:299742 View
Brunner Syndrome MaoaK284stop/Y 129S6/SvEvTac-MaoaK284stop J:136818 View
Brunner Syndrome MaoaTg(H2-K1-Ifnb1)8Seif/Y involves: C3H/HeJ J:26232 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
congenital stationary night blindness 1A Nyxnob/Nyxnob BALB/c-Nyxnob J:50824 View
congenital stationary night blindness 2A Cacna1fnob2/Cacna1fnob2 AXB6/PgnJ J:123811 View
congenital stationary night blindness 2A Cacna1fnob2/Y AXB6/PgnJ J:123811 View
congenital stationary night blindness 2A Cacna1fnob9/Cacna1fnob9 B6(PWD)-Cacna1fnob9/BocJ J:267160 View
congenital stationary night blindness 2A Cacna1ftm1.1Sdie/Cacna1f+ involves: C57BL/6 J:206214 View
congenital stationary night blindness 2A Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie B6.Cg-Cacna1ftm1.1Sdie/J J:212726 View
congenital stationary night blindness 2A Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie involves: C57BL/6 J:206214 View
congenital stationary night blindness 2A Cacna1ftm1.1Sdie/Y B6.Cg-Cacna1ftm1.1Sdie/J J:212726 View
congenital stationary night blindness 2A Cacna1ftm1.1Sdie/Y involves: C57BL/6 J:206214 View
congenital stationary night blindness 2A Cacna1ftm1.2Sdie/Cacna1ftm1.2Sdie B6.Cg-Cacna1ftm1.2Sdie/J J:212726 View
congenital stationary night blindness 2A Cacna1ftm1.2Sdie/Y B6.Cg-Cacna1ftm1.2Sdie/J J:212726 View
congenital stationary night blindness 2A Cacna1ftm1Ntbh/Cacna1ftm1Ntbh B6.129-Cacna1ftm1Ntbh J:102753 View
congenital stationary night blindness 2A Cacna1ftm1Ntbh/Y B6.129-Cacna1ftm1Ntbh J:102753 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
Dent disease Clcn5tm1Gug/Y involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:66560 View
Dent disease Clcn5tm1Tjj/Y B6.129-Clcn5tm1Tjj J:77111 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
Duchenne muscular dystrophy Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Dmdmdx
involves: 129 * C57BL/6 * C57BL/10ScSn J:187799 View
Duchenne muscular dystrophy Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Y
involves: 129 * C57BL/6 * C57BL/10ScSn J:187799 View
Duchenne muscular dystrophy Dmdem1Eno/Y involves: C57BL/6J J:253191 View
Duchenne muscular dystrophy Dmdem4Eno/Dmdem4Eno C57BL/6-Dmdem4Eno J:285447 View
Duchenne muscular dystrophy Dmdem4Eno/Y C57BL/6-Dmdem4Eno J:285447 View
Duchenne muscular dystrophy Dmdem#Tve/Y involves: C57BL/6 * CBA J:275476 View
Duchenne muscular dystrophy DmdGt(ROSABetageo)1Mpd/Y involves: 129S1/Sv J:47968 View
Duchenne muscular dystrophy Dmdmdx-3Cv/Y involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m. musculus J:23375 View
Duchenne muscular dystrophy Dmdmdx-4Cv/Dmdmdx-4Cv
Terctm1Rdp/Terctm1Rdp
B6.Cg-Terctm1Rdp Dmdmdx-4Cv J:200365 View
Duchenne muscular dystrophy Dmdmdx-5Cv/Dmdmdx-5Cv B6Ros.Cg-Dmdmdx-5Cv/J J:124861 View
Duchenne muscular dystrophy Dmdmdx-5Cv/Y B6Ros.Cg-Dmdmdx-5Cv J:177391 View
Duchenne muscular dystrophy Dmdmdx/?
Myod1tm1Jae/Myod1tm1Jae
involves: 129S4/SvJae * C57BL/10ScSn J:52248 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx C57BL/10ScSn-Dmdmdx J:150127 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx C57BL/10ScSn-Dmdmdx/J J:7361 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx D2.B10-Dmdmdx J:160773 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx D2.B10-Dmdmdx/J J:226314 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx
Foxk1tm1Djg/Foxk1tm1Djg
involves: 129S4/SvJae * C57BL/10ScSn J:62225 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn J:42389, J:59675 View
Duchenne muscular dystrophy Dmdmdx/Dmdmdx
Utrntm1Ked/Utrntm1Ked
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA J:42388 View
Duchenne muscular dystrophy Dmdmdx/Y C57BL/10ScSn-Dmdmdx J:150127, J:177391 View
Duchenne muscular dystrophy Dmdmdx/Y C57BL/10ScSn-Dmdmdx/J J:7361 View
Duchenne muscular dystrophy Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
involves: 129X1/SvJ * C57BL/10ScSn J:59675 View
Duchenne muscular dystrophy Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn J:59675 View
Duchenne muscular dystrophy Dmdmdx/Y
Foxk1tm1Djg/Foxk1tm1Djg
involves: 129S4/SvJae * C57BL/10ScSn J:62225 View
Duchenne muscular dystrophy Dmdmdx/Y
Terctm1Rdp/Terctm1Rdp
involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL J:167294 View
Duchenne muscular dystrophy Dmdmdx/Y
Tg(DMD*)#Spc/0
involves: 129P2/OlaHsd * C57BL/10ScSn * DBA/2 J:280218 View
Duchenne muscular dystrophy Dmdmdx/Y
Utrntm1Jrs/Utrn+
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn J:140282 View
Duchenne muscular dystrophy Dmdtm1.1Khan/Y involves: C57BL/6 * CBA J:96210 View
Duchenne muscular dystrophy Dmdtm1Kmf/Y involves: C57BL/6 J:233298 View
Duchenne muscular dystrophy Dmdtm1Mok/Y involves: 129S/SvEv J:43164 View
factor VIII deficiency F8tm1Kaz/Y involves: 129S4/SvJae * C57BL/6 J:24941 View
factor VIII deficiency F8tm2Kaz/Y involves: 129S4/SvJae * C57BL/6 J:24941 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
fragile X-associated tremor/ataxia syndrome Fmr1tm2Cgr/Y involves: 129P2/OlaHsd * C57BL/6J * FVB J:104445 View
glycogen storage disease IXd Phka1I/FnLn/Phka1I/FnLn I/FnLn J:42850 View
glycogen storage disease IXd Phka1I/FnLn/Y I/FnLn J:42850 View
hemophilia B F9em1Dlli/Y involves: C57BL/6J J:262204 View
hemophilia B F9em3Dlli/Y involves: C57BL/6J J:262204 View
hemophilia B F9tm1Dws/Y involves: 129P2/OlaHsd * C57BL/6 J:44497 View
hemophilia B F9tm1Emg/Y involves: 129S/SvEv * C57BL/6J J:48501 View
hemophilia B F9tm1Ver/F9tm1Ver involves: 129/Sv * C57BL/6 J:43590 View
hereditary spastic paraplegia 2 Plp1tm1c(EUCOMM)Wtsi/Y
Cnptm1(cre)Kan/Cnp+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N J:245100 View
hereditary spastic paraplegia 2 Plp1tm1Kan/Y involves: 129S1/Sv * 129X1/SvJ J:48031, J:245100 View
IGSF1 deficiency syndrome Igsf1tm1Zuk/Y either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) J:190867 View
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Foxp3sf/Y B6.Cg-Foxp3sf J:167802 View
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Foxp3sf/Y either: 129Rl.Cg-Foxp3sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR) J:66734 View
Lesch-Nyhan syndrome Hprt1b-m3/Hprt1b-m3 B6.129P2-Hprt1b-m3 J:17798 View
Lesch-Nyhan syndrome Hprt1b-m3/Y B6.129P2-Hprt1b-m3 J:17798, J:107966 View
MASA syndrome L1camtm1Mtei/Y either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * 129S/SvEv) J:43838 View
methylmalonic acidemia and homocysteinemia cblX type Hcfc1em1Poche/Y C57BL/6J-Hcfc1em1Poche J:317822 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 developmental disorder 111 Slitrk2tm1.1Jwum/Y
Tg(Nes-cre)1Atp/0
involves: C57BL/6J * FVB/N J:342291 View
non-syndromic X-linked intellectual disability Gdi1tm1Toni/Y B6N.129S7-Gdi1tm1Toni J:142806 View
non-syndromic X-linked intellectual disability 9 Ftsj1tm1Tomik/Y Not Specified J:328916 View
non-syndromic X-linked intellectual disability 30 Pak3tm1.1Rpo/Y B6.129S2(Cg)-Pak3tm1.1Rpo J:292116 View
non-syndromic X-linked intellectual disability 72 Rab39btm1Pdad/Y B6N.Cg-Rab39btm1Pdad J:341888 View
non-syndromic X-linked intellectual disability 98 Nexmiftm1(KOMP)Wtsi/Y B6J.B6N-Nexmiftm1(KOMP)Wtsi J:283395 View
Norrie disease Ndptm1Wbrg/Y involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA/CaJ * CD-1 J:77024 View
Norrie disease Ndptm1Wbrg/Y involves: 129P2/OlaHsd * C57BL/6 J:30902 View
Opitz GBBB syndrome Mid1tm1Mero/Y B6.Cg-Mid1tm1Mero J:157828 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
Pelizaeus-Merzbacher disease Dp(XTceal3-Plp1)1Gmh/Y involves: 129S7/SvEvBrd * C57BL/6 J:199809 View
Pelizaeus-Merzbacher disease Plp1jp-msd/Y involves: BALB/c * C3H * C57BL/6 * C57BL/10 J:121540 View
Pelizaeus-Merzbacher disease Plp1jp-rsh/Y involves: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr J:121540 View
Pelizaeus-Merzbacher disease Plp1tm1Frca/Y B6.129-Plp1tm1Frca J:143305 View
Pelizaeus-Merzbacher disease Plp1tm1Kan/? involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:146665 View
Pelizaeus-Merzbacher disease Tg(Plp)66Kan/0 B6NCrl.Cg-Tg(Plp)66Kan J:156106 View
Pelizaeus-Merzbacher disease Tg(Plp)66Kan/Tg(Plp)66Kan B6NCrl.Cg-Tg(Plp)66Kan J:156106 View
Pelizaeus-Merzbacher disease Tg(Plp)72Kan/Tg(Plp)72Kan B6N.Cg-Tg(Plp)72Kan J:229229 View
Renpenning syndrome Pqbp1tm1.1Hiok/Y
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * C57BL/6J J:279053 View
retinitis pigmentosa 2 Rp2Gt(EUCJ0183f04)Hmgu/Rp2Gt(EUCJ0183f04)Hmgu involves: C57BL/6 * C57BL/6N J:219642 View
retinitis pigmentosa 2 Rp2Gt(EUCJ0183f04)Hmgu/Y involves: C57BL/6 * C57BL/6N J:219642 View
retinitis pigmentosa 2 Rp2tm1.2Asw/Rp2tm1.2Asw involves: 129S/SvEv * C57BL/6 J:214194 View
retinitis pigmentosa 2 Rp2tm1.2Asw/Y involves: 129S/SvEv * C57BL/6 J:214194 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3Gt(Ex136)Byg/Gpc3+ involves: 129P2/OlaHsd * C57BL/6 J:64330 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3Gt(Ex136)Byg/Y involves: 129P2/OlaHsd * C57BL/6 J:64330 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Arge/Y either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J) J:75054 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Arge/Y
H19tm1Tilg/H19+
involves: 129S/SvEv * 129S1/Sv J:75054 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Fil/Gpc3+ B6.Cg-Gpc3tm1Fil J:73877 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Fil/Y B6.Cg-Gpc3tm1Fil J:73877 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Snd/Gpc3+ involves: 129X1/SvJ * C57BL/6 J:64330 View
Simpson-Golabi-Behmel syndrome type 1 Gpc3tm1Snd/Y involves: 129X1/SvJ * C57BL/6 J:64330 View
syndromic microphthalmia 2 Bcortm1.1Vjba/Bcor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S1/Sv * C57BL/6N * FVB/N J:296645 View
syndromic X-linked intellectual disability 5 Ap1s2tm1Pschu/Ap1s2tm1Pschu involves: 129P2/OlaHsd * C57BL/6 J:218588 View
syndromic X-linked intellectual disability Claes-Jensen type Kdm5ctm1.2Yshi/Y involves: 129 * 129S1/SvImJ * C57BL/6J J:262206 View
syndromic X-linked intellectual disability Raymond type Zdhhc9tm1Lex/Y B6.129S5-Zdhhc9tm1Lex J:268248 View
syndromic X-linked intellectual disability Siderius type Phf8tm1.1Cdcn/Y B6.129S6(Cg)-Phf8tm1.1Cdcn J:258245 View
Wiskott-Aldrich syndrome Wastm1Sbs/Wastm1Sbs 129S6/SvEvTac-Wastm1Sbs/J J:180407 View
Wiskott-Aldrich syndrome Wastm1Sbs/Wastm1Sbs either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6) J:48836 View
X-linked adrenal hypoplasia congenita Nr0b1tm1.1Lja/Y involves: 129S1/Sv * 129X1/SvJ J:51292, J:71710 View
X-linked agammaglobulinemia Blnktm1Pjln/Blnktm1Pjln
Btktm1Wk/Btktm1Wk
involves: 129S4/SvJae * BALB/c * C57BL/6 J:70406 View
X-linked agammaglobulinemia Btktm1Gsv/Y involves: 129P2/OlaHsd * C57BL/6 J:35769 View
X-linked agammaglobulinemia Btktm1Wk/Btktm1Wk involves: 129S4/SvJae * C57BL/6 J:28968 View
X-linked agammaglobulinemia Btktm1Wk/Btktm1Wk
Tectm1Welm/Tectm1Welm
involves: 129P2/OlaHsd * C57BL/6 J:66080 View
X-linked agammaglobulinemia Btkxid/Btkxid CBA/HN-Btkxid J:81429 View
X-linked agammaglobulinemia Btkxid/Btkxid involves: CBA/HN * DBA/2N J:81429 View
X-linked agammaglobulinemia Btkxid/Y CBA/HN-Btkxid J:81429 View
X-linked agammaglobulinemia Btkxid/Y involves: CBA/HN * DBA/2N J:81429 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 cleft palate with or without ankyloglossia Tbx22tm1.1Sta/Tbx22tm1.1Sta involves: 129 * CD-1 J:153100 View
X-linked cleft palate with or without ankyloglossia Tbx22tm1.1Sta/Y involves: 129/Sv * CD-1 J:153100 View
X-linked deafness 4 Smpxem1Jgao/Smpx+ CBA/CaJ-Smpxem1Jgao J:314284 View
X-linked deafness 4 Smpxem1Jgao/Smpxem1Jgao CBA/CaJ-Smpxem1Jgao J:314284 View
X-linked deafness 4 Smpxem1Jgao/Y CBA/CaJ-Smpxem1Jgao J:314284 View
X-linked deafness 4 Smpxem2Jgao/Smpx+ CBA/CaJ-Smpxem2Jgao J:314284 View
X-linked deafness 4 Smpxem2Jgao/Smpxem2Jgao CBA/CaJ-Smpxem2Jgao J:314284 View
X-linked deafness 4 Smpxem2Jgao/Y CBA/CaJ-Smpxem2Jgao J:314284 View
X-linked distal spinal muscular atrophy 3 Atp7atm1.1Mjp/Y
Mnx1tm4(cre)Tmj/Mnx1+
involves: 129S1/Sv * C57BL/6 J:221066 View
X-linked distal spinal muscular atrophy 3 Atp7atm1.2Mlke/Y involves: C57BL/6J J:266704 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
X-linked juvenile retinoschisis 1 Rs1em1Fegu/Y involves: C57BL/6J J:282252 View
X-linked juvenile retinoschisis 1 Rs1tm1.1Rom/Y involves: 129S6/SvEvTac * C57BL/6NTac J:285517 View
X-linked juvenile retinoschisis 1 Rs1tm1Sie/Rs1tm1Sie involves: 129S/SvEv * C57BL/6J J:93040 View
X-linked juvenile retinoschisis 1 Rs1tm1Sie/Y involves: 129S/SvEv * C57BL/6J J:93040 View
X-linked juvenile retinoschisis 1 Rs1tm1Web/Y involves: 129S1/Sv * C57BL/6 J:76332 View
X-linked juvenile retinoschisis 1 Rs1tm2.1Rom/Y involves: 129S6/SvEvTac * C57BL/6NTac J:285517 View
X-linked juvenile retinoschisis 1 Rs1tm3.1Rom/Y involves: 129S6/SvEvTac * C57BL/6NTac J:285517 View
X-linked juvenile retinoschisis 1 Rs1tmgc1/Rs1tmgc1 involves: C3H/Rl * C57BL/6 J:99982 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Cpt/Sh2d1atm1Cpt B6.129S4-Sh2d1atm1Cpt J:97388, J:97690 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Cpt/Sh2d1atm1Cpt C.129S4-Sh2d1atm1Cpt J:97388 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Cpt/Sh2d1atm1Cpt involves: 129S4/SvJae * BALB/c J:97756 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Cpt/Sh2d1atm1Cpt involves: 129S4/SvJae * C57BL/6 J:97756 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Lyin/Sh2d1atm1Lyin involves: 129S2/SvPas * C57BL/6 J:97346 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Lyin/Y involves: 129S2/SvPas * C57BL/6 J:97346 View
X-linked lymphoproliferative syndrome 1 Sh2d1atm1Pls/Sh2d1atm1Pls either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) J:70032 View
X-linked nephrogenic diabetes insipidus Avpr2tm2.1Jwe/Y
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129 * C57BL/6 J:324922 View
      Barth syndrome Fkbp1atm1Zuk/Fkbp1atm1Zuk either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) J:45536 View
Barth syndrome Mesttm1Masu/Mest+ involves: 129S1/Sv * 129X1/SvJ J:79223 View
Duchenne muscular dystrophy Tg(ACTA1-Ctss)1Jmol/? FVB/N-Tg(ACTA1-Ctss)1Jmol J:230788 View
non-syndromic X-linked intellectual disability Dlg3tm1Grnt/Y involves: 129P2/OlaHsd * C57BL/6J J:238576 View
non-syndromic X-linked intellectual disability Iqsec2em1Csbg/Y C57BL/6NHsd-Iqsec2em1Csbg J:284750 View
non-syndromic X-linked intellectual disability Iqsec2em1Frk/Y involves: C3HeB/FeJ * C57BL/6NJ J:284762 View
Norrie disease Fzd4tm1Nat/Fzd4tm1Nat involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:107732 View
retinitis pigmentosa 2 Tg(Rho-Arl3*Q71L)#Visu/0 involves: 129 * FVB/N J:235882 View
syndromic X-linked intellectual developmental disorder bain type Hnrnph2em1Jpat/Hnrnph2+ C57BL/6J-Hnrnph2em1Jpat J:338313 View
syndromic X-linked intellectual developmental disorder bain type Hnrnph2em1Jpat/Y C57BL/6J-Hnrnph2em1Jpat J:338313 View
syndromic X-linked intellectual developmental disorder bain type Hnrnph2em2Jpat/Y C57BL/6J-Hnrnph2em2Jpat J:338313 View
syndromic X-linked intellectual disability Arxtm1.1Ics/Y involves: 129S2/SvPas * C57BL/6J * C57BL/6N J:262482 View
syndromic X-linked intellectual disability Rab39bem1Jfch/Y C57BL/6N-Rab39bem1Jfch J:287752 View
Wiskott-Aldrich syndrome Foxp3sf/Y involves: 101/H * C3H/HeH * STOCK MR J:10398 View
Wiskott-Aldrich syndrome Washc4em1Ssod/Washc4em1Ssod involves: C57BL/6J * SJL/J J:303795 View
X-linked agammaglobulinemia Pik3r1tm1Dfr/Pik3r1tm1Dfr involves: 129S6/SvEvTac * C57BL/6 J:52229, J:65523 View
X-linked agammaglobulinemia Pik3r1tm1Tka/Pik3r1tm1Tka involves: C57BL/6 * CBA J:52228 View
X-linked chondrodysplasia punctata 1 EbpTd/Ebp+ Not Specified J:55860 View
X-linked chondrodysplasia punctata 1 NsdhlBpa-1H/Nsdhl+ involves: 101/H * C3H/HeH J:7012 View
X-linked dilated cardiomyopathy Xlch/? C57BL/6J-Xlch J:136798 View
X-linked dilated cardiomyopathy Xlch/Xlch+ involves: C3H/HeJ * C57BL/6J J:136798 View
      Dent disease Inpp5btm1Nbm/Inpp5btm1Nbm
Ocrltm1Nbm/Ocrltm1Nbm
Tg(INPP5B)CNbm/0
involves: 129S/SvEv * 129S6/SvEvTac * FVB/N J:185879 View
Dent disease Inpp5btm1Nbm/Inpp5btm1Nbm
Ocrltm1Nbm/Y
Tg(INPP5B)CNbm/0
involves: 129S/SvEv * 129S6/SvEvTac * FVB/N J:185879 View
Duchenne muscular dystrophy Itga7tm1Burk/Itga7tm1Burk
Sspntm1Kcam/Sspntm1Kcam
involves: 129S1/Sv * 129X1/SvJ J:187752 View
Kennedy's disease Artm4(AR)Dmr/Y involves: 129S1/Sv * C57BL/6J J:104360, J:114552 View
oculocerebrorenal syndrome Inpp5btm1Nbm/Inpp5btm1Nbm
Ocrltm1Nbm/Ocrltm1Nbm
Tg(INPP5B)CNbm/0
involves: 129S/SvEv * 129S6/SvEvTac * FVB/N J:185879 View
oculocerebrorenal syndrome Inpp5btm1Nbm/Inpp5btm1Nbm
Ocrltm1Nbm/Y
Tg(INPP5B)CNbm/0
involves: 129S/SvEv * 129S6/SvEvTac * FVB/N J:185879 View
syndromic X-linked intellectual disability Lubs type Mapttm1(Mecp2)Jae/Mapttm1(Mecp2)Jae B6.Cg-Mapttm1(Mecp2)Jae J:182685 View
Transgenes and
Other Mutations
     fragile X-associated tremor/ataxia syndrome Tg(Hnrnpa2b1-rtTA2S*M2)9Jstr/0
Tg(tetO-FMR1*,-EGFP)#Rkhu/0
involves: C57BL/6JRj * FVB/N J:229379 View
fragile X-associated tremor/ataxia syndrome Tg(Pcp2-FMR1*)1Dln/0 C57BL/6-Tg(Pcp2-Fmr1*)1Dln J:149320 View
fragile X-associated tremor/ataxia syndrome Tg(Prnp-rtTA2S*M2)#Rkhu/0
Tg(tetO-FMR1*,-EGFP)#Rkhu/0
involves: C57BL/6JRj J:224760 View
Kennedy's disease Tg(ACTA1-Ar)141Kyjo/0 Not Specified J:127205 View
Kennedy's disease Tg(AR*100Q)#Als/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:170487 View
Kennedy's disease Tg(AR*100Q)C25Als/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:89772 View
Kennedy's disease Tg(AR*100Q)C32Als/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:89772 View
Kennedy's disease Tg(CAG-AR*97Q)7-8Sobue/? involves: C57BL/6 * C57BL/6J * DBA/2 J:128519 View
Kennedy's disease Tg(Prnp-AR*112Q)#Deme/0 involves: C57BL/6 * SJL J:134789 View
syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo/0 either: (FVB/N x 129S6/SvEvTac)F1 or (FVB/N x C57BL/6J)F1 J:181213 View
syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo/0 FVB-Tg(MECP2)1Hzo/J J:253720 View
syndromic X-linked intellectual disability Lubs type Tg(MECP2)3Hzo/0 either: (FVB/N x 129S6/SvEvTac)F1 or (FVB/N x C57BL/6J)F1 J:181213 View
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


       
No similarity to the expected human disease phenotype was found.
        Disease Term Allelic Composition Genetic Background Reference Phenotypes
NOT Models      adrenoleukodystrophy Acsbg1tm1Mld/Acsbg1tm1Mld involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:150391 View
amelogenesis imperfecta type 1E Tg(Amelx)42Msnd/Tg(Amelx)42Msnd involves: C57BL/6J * CBA/J * DBA/2J J:100004 View
hereditary spastic paraplegia 2 Plp1tm1c(EUCOMM)Wtsi/Y
Neurod6tm1(cre)Kan/Neurod6+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N J:245100 View
oculocerebrorenal syndrome Ocrltm1Nbm/Ocrltm1Nbm either: (involves: 129S/SvEv * C57BL/6) or (involves: 129S/SvEv * NIH Black Swiss) J:47884 View
X-linked ichthyosis Foxp3sf/Y either: 129Rl.Cg-Foxp3sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR) J:11262 View
X-linked ichthyosis Foxp3sf/Y involves: STOCK MR J:14076 View
X-linked severe combined immunodeficiency Il2rgtm1Cgn/Il2rgtm1Cgn involves: 129 * CB20 J:22521 View
X-linked severe combined immunodeficiency Il2rgtm1Cgn/Y involves: 129 * CB20 J:22521 View
X-linked severe combined immunodeficiency Il2rgtm1Sug/Y either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6) J:31167 View