| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | adrenoleukodystrophy | ABCD1* | Abcd1* | 9 models | Alliance of Genome Resources | ||
| Allan-Herndon-Dudley syndrome | SLC16A2* | Slc16a2* | 1 model | Alliance of Genome Resources | |||
| Barth syndrome | TAFAZZIN* | Tafazzin* | 3 models | Alliance of Genome Resources | |||
| blue cone monochromacy | OPN1LW*, OPN1MW*, OPN1MW2, OPN1MW3 | Opn1mw* | 1 model | Alliance of Genome Resources | |||
| Borjeson-Forssman-Lehmann syndrome | PHF6* | Phf6* | 2 models | Alliance of Genome Resources | |||
| Brunner Syndrome | MAOA* | Maoa* | 2 models | Alliance of Genome Resources | |||
| congenital stationary night blindness 1A | NYX* | Nyx* | 1 model | Alliance of Genome Resources | |||
| congenital stationary night blindness 2A | CACNA1F* | Cacna1f* | 12 models | Alliance of Genome Resources | |||
| Duchenne muscular dystrophy | DMD* | Dmd* | 30 models | Alliance of Genome Resources | |||
| factor VIII deficiency | F8* | F8* | 2 models | Alliance of Genome Resources | |||
| glycogen storage disease IXd | PHKA1* | Phka1* | 2 models | Alliance of Genome Resources | |||
| hemophilia B | F9* | F9* | 5 models | Alliance of Genome Resources | |||
| hereditary spastic paraplegia 2 | PLP1* | Plp1* | 2 models | Alliance of Genome Resources | |||
| IGSF1 deficiency syndrome | IGSF1* | Igsf1* | 1 model | Alliance of Genome Resources | |||
| immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | FOXP3* | Foxp3* | 2 models | Alliance of Genome Resources | |||
| Lesch-Nyhan syndrome | HPRT1* | Hprt1* | 2 models | Alliance of Genome Resources | |||
| MASA syndrome | L1CAM* | L1cam* | 1 model | Alliance of Genome Resources | |||
| methylmalonic acidemia and homocysteinemia cblX type | HCFC1* | Hcfc1* | 1 model | Alliance of Genome Resources | |||
| non-syndromic X-linked intellectual disability 30 | PAK3* | Pak3* | 1 model | Alliance of Genome Resources | |||
| non-syndromic X-linked intellectual disability 72 | RAB39B* | Rab39b* | 1 model | Alliance of Genome Resources | |||
| non-syndromic X-linked intellectual disability 9 | FTSJ1* | Ftsj1* | 1 model | Alliance of Genome Resources | |||
| Norrie disease | NDP* | Ndp* | 2 models | Alliance of Genome Resources | |||
| Opitz GBBB syndrome | MID1* | Mid1* | 1 model | Alliance of Genome Resources | |||
| Pelizaeus-Merzbacher disease | PLP1* | Plp1* | 8 models | Alliance of Genome Resources | |||
| Renpenning syndrome | PQBP1* | Pqbp1* | 1 model | Alliance of Genome Resources | |||
| Simpson-Golabi-Behmel syndrome type 1 | GPC3* | Gpc3* | 8 models | Alliance of Genome Resources | |||
| syndromic X-linked intellectual disability 5 | AP1S2* | Ap1s2* | 1 model | Alliance of Genome Resources | |||
| syndromic X-linked intellectual disability Claes-Jensen type | KDM5C* | Kdm5c* | 1 model | Alliance of Genome Resources | |||
| syndromic X-linked intellectual disability Siderius type | PHF8* | Phf8* | 1 model | Alliance of Genome Resources | |||
| Wiskott-Aldrich syndrome | WAS* | Was* | 2 models | Alliance of Genome Resources | |||
| X-linked adrenal hypoplasia congenita | NR0B1* | Nr0b1* | 1 model | Alliance of Genome Resources | |||
| X-linked agammaglobulinemia | BTK* | Btk* | 8 models | Alliance of Genome Resources | |||
| X-linked distal spinal muscular atrophy 3 | ATP7A* | Atp7a* | 2 models | Alliance of Genome Resources | |||
| X-linked intellectual disability-short stature-overweight syndrome | THOC2* | Thoc2*, Thoc2l | 1 model | Alliance of Genome Resources | |||
| X-linked juvenile retinoschisis 1 | RS1* | Rs1* | 8 models | Alliance of Genome Resources | |||
| X-linked lymphoproliferative syndrome 1 | SH2D1A* | Sh2d1a* | 7 models | Alliance of Genome Resources | |||
| X-linked nephrogenic diabetes insipidus | AVPR2* | Avpr2* | 1 model | Alliance of Genome Resources | |||
| | Barth syndrome | MEST | Mest* | 1 model | Alliance of Genome Resources | ||
| Barth syndrome | FKBP1A, FKBP1C | Fkbp1a* | 1 model | Alliance of Genome Resources | |||
| Dent disease | CLCN5 | Clcn5* | 2 models | Alliance of Genome Resources | |||
| Duchenne muscular dystrophy | CTSS | Ctss* | 1 model | Alliance of Genome Resources | |||
| Norrie disease | FZD4 | Fzd4* | 1 model | Alliance of Genome Resources | |||
| Wiskott-Aldrich syndrome | FOXP3 | Foxp3* | 1 model | Alliance of Genome Resources | |||
| Wiskott-Aldrich syndrome | WASHC4 | Washc4* | 1 model | Alliance of Genome Resources | |||
| X-linked agammaglobulinemia | PIK3R1 | Pik3r1* | 2 models | Alliance of Genome Resources | |||
| X-linked chondrodysplasia punctata 1 | NSDHL | Nsdhl* | 1 model | Alliance of Genome Resources | |||
| X-linked chondrodysplasia punctata 1 | EBP | Ebp* | 1 model | Alliance of Genome Resources | |||
| | Aland Island eye disease | CACNA1F* | Cacna1f | Alliance of Genome Resources | |||
| CD40 ligand deficiency | CD40LG* | Cd40lg | Alliance of Genome Resources | ||||
| Charcot-Marie-Tooth disease X-linked recessive 4 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
| Charcot-Marie-Tooth disease X-linked recessive 5 | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
| CK syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
| combined oxidative phosphorylation deficiency 6 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
| congenital disorder of glycosylation Icc | MAGT1* | Magt1 | Alliance of Genome Resources | ||||
| congenital disorder of glycosylation Iy | SSR4* | Ssr4 | Alliance of Genome Resources | ||||
| congenital nongoitrous hypothyroidism 9 | IRS4* | Irs4 | Alliance of Genome Resources | ||||
| Dent disease 1 | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
| Dent disease 2 | OCRL* | Ocrl | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 1 | ARX* | Arx | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 8 | ARHGEF9* | Arhgef9 | Alliance of Genome Resources | ||||
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | TSR2* | Tsr2 | Alliance of Genome Resources | ||||
| Duchenne muscular dystrophy | ITGA7* | Itga7 | 1 model | Alliance of Genome Resources | |||
| Duchenne muscular dystrophy | DAG1* | Dag1 | Alliance of Genome Resources | ||||
| ectodermal dysplasia 1 | EDA* | Eda | Alliance of Genome Resources | ||||
| ectodermal dysplasia and immunodeficiency 1 | IKBKG* | Ikbkg | Alliance of Genome Resources | ||||
| factor VIII deficiency | FCGR2A*, FCGR2B, FCGR2C | Fcgr2b, Fcgr3 | Alliance of Genome Resources | ||||
| factor VIII deficiency | F2* | F2 | Alliance of Genome Resources | ||||
| factor VIII deficiency | HLA-DQA1*, HLA-DQA2 | H2-Aa | Alliance of Genome Resources | ||||
| factor VIII deficiency | HMOX1* | Hmox1 | Alliance of Genome Resources | ||||
| factor VIII deficiency | IFNG* | Ifng | Alliance of Genome Resources | ||||
| factor VIII deficiency | IL10* | Il10 | Alliance of Genome Resources | ||||
| factor VIII deficiency | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
| factor VIII deficiency | PLAT* | Plat | Alliance of Genome Resources | ||||
| factor VIII deficiency | TFPI* | Tfpi | Alliance of Genome Resources | ||||
| factor VIII deficiency | TGFB1* | Tgfb1 | Alliance of Genome Resources | ||||
| Fanconi anemia complementation group B | FANCB* | Fancb | Alliance of Genome Resources | ||||
| FG syndrome | MED12* | Med12 | Alliance of Genome Resources | ||||
| FG syndrome | CASK* | Cask | Alliance of Genome Resources | ||||
| frontometaphyseal dysplasia 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
| Galloway-Mowat syndrome 2 | LAGE3* | Lage3 | Alliance of Genome Resources | ||||
| glycogen storage disease IXa | PHKA2* | Phka2 | Alliance of Genome Resources | ||||
| hemophilia B | F2* | F2 | Alliance of Genome Resources | ||||
| Holoprosencephaly 13, X-linked | STAG2* | Stag2 | Alliance of Genome Resources | ||||
| HRPT-related hyperuricemia | HPRT1* | Hprt1 | Alliance of Genome Resources | ||||
| hypogonadotropic hypogonadism 1 with or without anosmia | ANOS1* | ||||||
| ichthyosis follicularis-alopecia-photophobia syndrome 1 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | DOCK8* | Dock8 | Alliance of Genome Resources | ||||
| immunodeficiency 33 | IKBKG* | Ikbkg | Alliance of Genome Resources | ||||
| immunodeficiency 34 | CYBB* | Cybb | Alliance of Genome Resources | ||||
| immunodeficiency 47 | ATP6AP1* | Atp6ap1 | Alliance of Genome Resources | ||||
| immunodeficiency 50 | MSN* | Msn | Alliance of Genome Resources | ||||
| isolated growth hormone deficiency type III | BTK* | Btk | Alliance of Genome Resources | ||||
| Joubert syndrome 10 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
| Keipert syndrome | GPC4* | Gpc4 | Alliance of Genome Resources | ||||
| Kennedy's disease | AR* | Ar | 1 model | Alliance of Genome Resources | |||
| Lesch-Nyhan syndrome | XDH* | Xdh | Alliance of Genome Resources | ||||
| low molecular weight proteinuria with hypercalciuric nephrocalcinosis | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
| megalocornea | LTBP2* | Ltbp2 | Alliance of Genome Resources | ||||
| MEHMO syndrome | EIF2S3*, EIF2S3B | Eif2s3x | Alliance of Genome Resources | ||||
| MEND syndrome | EBP* | Ebp | Alliance of Genome Resources | ||||
| midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | AMMECR1* | Ammecr1 | Alliance of Genome Resources | ||||
| multiple congenital anomalies-hypotonia-seizures syndrome 2 | PIGA* | Piga | Alliance of Genome Resources | ||||
| nephrogenic syndrome of inappropriate antidiuresis | AVPR2* | Avpr2 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 100 | KIF4A*, KIF4B | Kif4 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 101 | MID2* | Mid2 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 103 | KLHL15* | Klhl15 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 104 | FRMPD4* | Frmpd4 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 105 | USP27X* | Usp27x | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 21 | IL1RAPL1* | Il1rapl1 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 58 | TSPAN7* | Tspan7 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 90 | DLG3* | Dlg3 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 93 | BRWD3* | Brwd3 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 96 | SYP* | Syp | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability ARX-related | ARX* | Arx | Alliance of Genome Resources | ||||
| nuclear type mitochondrial complex I deficiency 12 | NDUFA1* | Ndufa1 | Alliance of Genome Resources | ||||
| nuclear type mitochondrial complex I deficiency 30 | NDUFB11* | Ndufb11, Ndufb11b | Alliance of Genome Resources | ||||
| occipital horn syndrome | ATP7A* | Atp7a | Alliance of Genome Resources | ||||
| oculocerebrorenal syndrome | OCRL* | Ocrl | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 19 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| Paganini-Miozzo syndrome | HS6ST2* | Hs6st2 | Alliance of Genome Resources | ||||
| partial androgen insensitivity syndrome | AR* | Ar | Alliance of Genome Resources | ||||
| Partington syndrome | ARX* | Arx | Alliance of Genome Resources | ||||
| phosphoglycerate kinase 1 deficiency | PGK1* | Pgk1 | Alliance of Genome Resources | ||||
| phosphoribosylpyrophosphate synthetase superactivity | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
| Prieto syndrome | WNK3* | Wnk3 | Alliance of Genome Resources | ||||
| primary ovarian insufficiency 2B | POF1B* | Pof1b | Alliance of Genome Resources | ||||
| retinitis pigmentosa 23 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
| Ritscher-Schinzel syndrome 2 | CCDC22* | Ccdc22 | Alliance of Genome Resources | ||||
| severe congenital encephalopathy due to MECP2 mutation | MECP2* | Mecp2 | Alliance of Genome Resources | ||||
| Shukla-Vernon syndrome | BCORL1* | Bcorl1 | Alliance of Genome Resources | ||||
| sideroblastic anemia 1 | ALAS2* | Alas2 | Alliance of Genome Resources | ||||
| Simpson-Golabi-Behmel syndrome type 2 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
| syndactyly type 8 | FGF16* | Fgf16 | Alliance of Genome Resources | ||||
| syndromic X-linked intellectual disability Snyder type | SMS* | Sms, Sms-ps | Alliance of Genome Resources | ||||
| syndromic X-linked intellectual disorder Lujan-Fryns-type | MED12* | Med12 | Alliance of Genome Resources | ||||
| syndromic X-linked mental retardation 35 | RPL10* | Rpl10, Rpl10-ps3 | Alliance of Genome Resources | ||||
| Van Esch-O'Driscoll syndrome | POLA1* | Pola1 | Alliance of Genome Resources | ||||
| Waisman syndrome | RAB39B* | Rab39b | Alliance of Genome Resources | ||||
| Wieacker-Wolff syndrome | ZC4H2* | Zc4h2 | Alliance of Genome Resources | ||||
| Wilson-Turner syndrome | LAS1L* | Las1l | Alliance of Genome Resources | ||||
| Wilson-Turner syndrome | HDAC8* | Hdac8 | Alliance of Genome Resources | ||||
| X-linked Aarskog syndrome | FGD1* | Fgd1 | Alliance of Genome Resources | ||||
| X-linked atrophic macular degeneration | RPGR* | Rpgr | Alliance of Genome Resources | ||||
| X-linked chondrodysplasia punctata 1 | ARSL* | ||||||
| X-linked chronic granulomatous disease | CYBB* | Cybb | Alliance of Genome Resources | ||||
| X-linked chronic idiopathic intestinal pseudo-obstruction | FLNA* | Flna | Alliance of Genome Resources | ||||
| X-linked cone-rod dystrophy 3 | CACNA1F* | Cacna1f | Alliance of Genome Resources | ||||
| X-linked congenital hemolytic anemia | ATP11C* | Atp11c | Alliance of Genome Resources | ||||
| X-linked deafness 5 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
| X-linked dyserythropoietic anemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
| X-linked dyskeratosis congenita | DKC1* | Dkc1 | Alliance of Genome Resources | ||||
| X-linked dystonia-parkinsonism | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources | ||||
| X-linked Emery-Dreifuss muscular dystrophy 1 | EMD* | Emd | Alliance of Genome Resources | ||||
| X-linked Emery-Dreifuss muscular dystrophy 6 | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
| X-linked ichthyosis | STS* | Sts | Alliance of Genome Resources | ||||
| X-Linked immunodeficiency 74 | TLR7* | Tlr7 | Alliance of Genome Resources | ||||
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | MAGT1* | Magt1 | Alliance of Genome Resources | ||||
| X-linked intellectual developmental disorder 108 | SLC9A7* | Slc9a7 | Alliance of Genome Resources | ||||
| X-linked intellectual developmental disorder 109 | AFF2* | Aff2 | Alliance of Genome Resources | ||||
| X-linked keratosis follicularis spinulosa decalvans | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| X-linked lymphoproliferative syndrome 2 | XIAP*, BIRC8 | Xiap | Alliance of Genome Resources | ||||
| X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| X-linked myopathy with excessive autophagy | VMA21* | Vma21 | Alliance of Genome Resources | ||||
| X-linked nephrolithiasis type I | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
| X-linked parkinsonism-spasticity syndrome | ATP6AP2* | Atp6ap2 | Alliance of Genome Resources | ||||
| X-linked properdin deficiency | CFP* | Cfp | Alliance of Genome Resources | ||||
| X-linked recessive hypophosphatemic rickets | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
| X-linked severe combined immunodeficiency | IL2RG* | Il2rg | 3 "NOT" models | Alliance of Genome Resources | |||
| X-linked severe congenital neutropenia | WAS* | Was | Alliance of Genome Resources | ||||
| X-linked sideroblastic anemia with ataxia | ABCB7* | Abcb7 | Alliance of Genome Resources | ||||
| X-linked spermatogenic failure 2 | TEX11* | Tex11 | Alliance of Genome Resources | ||||
| X-linked spermatogenic failure 3 | CFAP47* | Cfap47 | Alliance of Genome Resources | ||||
| X-linked spermatogenic failure 7 | CT55* | Ct55 | Alliance of Genome Resources | ||||
| X-linked spinal muscular atrophy 2 | UBA1* | Uba1 | Alliance of Genome Resources | ||||
| X-linked spinocerebellar ataxia 1 | ATP2B3* | Atp2b3 | Alliance of Genome Resources | ||||
| X-linked spondyloepimetaphyseal dysplasia | BGN* | Bgn | Alliance of Genome Resources | ||||
| X-linked spondyloepiphyseal dysplasia tarda | TRAPPC2*, TRAPPC2B | Trappc2, Trappc2b | Alliance of Genome Resources | ||||
| X-linked thrombocytopenia with beta-thalassemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
| X-linked VACTERL association | ZIC3* | Zic3 | 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 | |
| Duchenne muscular dystrophy | Tg(ACTA1-Ctss)1Jmol | 1 model | |
| Kennedy's disease | Tg(CAG-AR*97Q)7-8Sobue | 1 model | |
| Kennedy's disease | Tg(AR*100Q)C32Als | 1 model | |
| Kennedy's disease | Tg(AR*100Q)C25Als | 1 model | |
| Kennedy's disease | Tg(AR*100Q)#Als | 1 model | |
| Kennedy's disease | Tg(ACTA1-Ar)141Kyjo | 1 model | |
| Kennedy's disease | Tg(Prnp-AR*112Q)#Deme | 1 model | |
| Pelizaeus-Merzbacher disease | Tg(Plp)72Kan | 1 model | |
| Pelizaeus-Merzbacher disease | Tg(Plp)66Kan | 2 models | |
| Pelizaeus-Merzbacher disease | Dp(XTceal3-Plp1)1Gmh | 1 model | |