Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | alpha thalassemia-X-linked intellectual disability syndrome | ATRX* | Atrx* | 3 models | Alliance of Genome Resources | ||
amelogenesis imperfecta type 1E | AMELX*, AMELY | Amelx* | 6 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease X-linked dominant 1 | GJB1* | Gjb1* | 4 models | Alliance of Genome Resources | |||
Christianson syndrome | SLC9A6* | Slc9a6* | 3 models | Alliance of Genome Resources | |||
Coffin-Lowry syndrome | RPS6KA3* | Rps6ka3* | 5 models | Alliance of Genome Resources | |||
Cornelia de Lange syndrome 5 | HDAC8* | Hdac8* | 1 model | Alliance of Genome Resources | |||
craniofrontonasal syndrome | EFNB1* | Efnb1* | 1 model | Alliance of Genome Resources | |||
Danon disease | LAMP2* | Lamp2* | 3 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 2 | CDKL5* | Cdkl5* | 2 models | Alliance of Genome Resources | |||
focal dermal hypoplasia | PORCN* | Porcn* | 14 models | Alliance of Genome Resources | |||
fragile X syndrome | FMR1* | Fmr1* | 10 models | Alliance of Genome Resources | |||
Nance-Horan syndrome | NHS* | Nhs* | 3 models | Alliance of Genome Resources | |||
neurodegeneration with brain iron accumulation 5 | WDR45* | Wdr45* | 2 models | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability 98 | NEXMIF* | Nexmif* | 1 model | Alliance of Genome Resources | |||
orofaciodigital syndrome I | OFD1* | Ofd1* | 2 models | Alliance of Genome Resources | |||
syndromic microphthalmia 2 | BCOR*, BCORP1 | Bcor* | 1 model | Alliance of Genome Resources | |||
X-linked Alport syndrome | COL4A5* | Col4a5* | 3 models | Alliance of Genome Resources | |||
X-linked dominant hypophosphatemic rickets | PHEX* | Phex* | 20 models | Alliance of Genome Resources | |||
![]() | X-linked dominant hypophosphatemic rickets | Gy* | 1 model | ||||
![]() | 46,XX sex reversal 1 | SRY* | Sry | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease X-linked dominant 6 | PDK3* | Pdk3 | Alliance of Genome Resources | ||||
CHILD syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | HDAC6* | Hdac6 | Alliance of Genome Resources | ||||
congenital disorder of glycosylation type IIm | SLC35A2* | Slc35a2 | Alliance of Genome Resources | ||||
Cornelia de Lange syndrome 2 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
deafness, dystonia, and cerebral hypomyelination | BCAP31* | Bcap31 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 36 | ALG13* | Alg13 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 85 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 9 | PCDH19* | Pcdh19 | Alliance of Genome Resources | ||||
female-restricted syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
Holoprosencephaly 13, X-linked | STAG2* | Stag2 | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 1 | HCCS* | Hccs | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 2 | COX7B* | Cox7b | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 3 | NDUFB11* | Ndufb11, Ndufb11b | Alliance of Genome Resources | ||||
Lisch epithelial corneal dystrophy | MCOLN1* | Mcoln1 | Alliance of Genome Resources | ||||
nonphotosensitive trichothiodystrophy 5 | RNF113A* | Rnf113a1, Rnf113a2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 1 | IQSEC2* | Iqsec2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 107 | STEEP1* | Steep1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 19 | RPS6KA3* | Rps6ka3 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 41 | GDI1* | Gdi1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 63 | ACSL4* | Acsl4 | Alliance of Genome Resources | ||||
otopalatodigital syndrome type 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
otopalatodigital syndrome type 2 | FLNA* | Flna | Alliance of Genome Resources | ||||
primary ovarian insufficiency 2A | DIAPH2* | Diaph2 | Alliance of Genome Resources | ||||
Raynaud-Claes syndrome | CLCN4* | Clcn4 | Alliance of Genome Resources | ||||
reducing body myopathy 1A | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
X-linked chondrodysplasia punctata 2 | EBP* | Ebp | Alliance of Genome Resources |
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 | |
amelogenesis imperfecta type 1E | Tg(AMELX*P70T)2Gibs | 2 models | |
X-linked dominant hypophosphatemic rickets | Tg(APOE-FGF23*R176Q)#Ack | 1 model | |
X-linked dominant hypophosphatemic rickets | Tg(Col1a1-FGF2*,-Sapphire)203Mmh | 1 model |