Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     DiGeorge syndrome TBX1* Tbx1* 23 models Alliance of Genome Resources
hypoparathyroidism-deafness-renal disease syndrome GATA3* Gata3* 2 models Alliance of Genome Resources
Kleefstra syndrome 1 EHMT1* Ehmt1* 2 models Alliance of Genome Resources
Phelan-McDermid syndrome SHANK3* Shank3* 4 models Alliance of Genome Resources
Prader-Willi syndrome NDN* Ndn* 8 models Alliance of Genome Resources
Prader-Willi syndrome SNRPN* Snrpn* 4 models Alliance of Genome Resources
Rubinstein-Taybi syndrome CREBBP* Crebbp* 4 models Alliance of Genome Resources
Smith-Magenis syndrome RAI1* Rai1* 5 models Alliance of Genome Resources
velocardiofacial syndrome TBX1* Tbx1* 6 models Alliance of Genome Resources
Williams-Beuren syndrome EIF4H* Eif4h* 3 models Alliance of Genome Resources
     chromosome 10q23 deletion syndrome BMPR1A Bmpr1a* 1 model Alliance of Genome Resources
chromosome 15q13.3 microdeletion syndrome OTUD7A Otud7a* 3 models Alliance of Genome Resources
chromosome 1p36 deletion syndrome CASZ1 Casz1* 1 model Alliance of Genome Resources
chromosome 1p36 deletion syndrome KCNAB2 Kcnab2* 1 model Alliance of Genome Resources
chromosome 1q41-q42 deletion syndrome TP53BP2 Trp53bp2* 3 models Alliance of Genome Resources
chromosome 9p deletion syndrome FREM1 Frem1* 2 models Alliance of Genome Resources
DiGeorge syndrome ALDH1A2 Aldh1a2* 1 model Alliance of Genome Resources
DiGeorge syndrome b2b954Clo* 1 model
DiGeorge syndrome b2b1941Clo* 1 model
DiGeorge syndrome b2b2696Clo* 1 model
DiGeorge syndrome CHRD Chrd* 1 model Alliance of Genome Resources
DiGeorge syndrome CRKL Crkl* 1 model Alliance of Genome Resources
DiGeorge syndrome DICER1 Dicer1* 1 model Alliance of Genome Resources
DiGeorge syndrome DOCK1 Dock1* 1 model Alliance of Genome Resources
DiGeorge syndrome FGF8 Fgf8* 1 model Alliance of Genome Resources
DiGeorge syndrome FOXN1 Foxn1* 1 model Alliance of Genome Resources
DiGeorge syndrome HOXA3 Hoxa3* 1 model Alliance of Genome Resources
DiGeorge syndrome KAT6A Kat6a* 2 models Alliance of Genome Resources
DiGeorge syndrome NDST1 Ndst1* 1 model Alliance of Genome Resources
DiGeorge syndrome PLXND1 Plxnd1* 2 models Alliance of Genome Resources
DiGeorge syndrome pta* 1 model
DiGeorge syndrome TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
DiGeorge syndrome VEGFA Vegfa* 2 models Alliance of Genome Resources
DiGeorge syndrome ZNF366 Zfp366* 1 model Alliance of Genome Resources
Down syndrome DYRK1A Dyrk1a* 7 models Alliance of Genome Resources
hypotonia-cystinuria syndrome CAMKMT Camkmt* 2 models Alliance of Genome Resources
Phelan-McDermid syndrome TCF20 Tcf20*, Zfp957 1 model Alliance of Genome Resources
Potocki-Lupski syndrome RAI1 Rai1* 3 models Alliance of Genome Resources
Prader-Willi syndrome HTR2C Htr2c* 1 model Alliance of Genome Resources
Prader-Willi syndrome MAGEL2 Magel2* 3 models Alliance of Genome Resources
velocardiofacial syndrome CHRD Chrd* 1 model Alliance of Genome Resources
velocardiofacial syndrome b2b1941Clo* 1 model
velocardiofacial syndrome CRKL Crkl* 1 model Alliance of Genome Resources
velocardiofacial syndrome EDNRA Ednra* 1 model Alliance of Genome Resources
velocardiofacial syndrome MAPK1 Mapk1* 1 model Alliance of Genome Resources
velocardiofacial syndrome PRICKLE1 Prickle1* 1 model Alliance of Genome Resources
velocardiofacial syndrome TRAPPC10 Trappc10* 1 model Alliance of Genome Resources
Williams-Beuren syndrome b2b370Clo* 1 model
Williams-Beuren syndrome GTF2I Gtf2i* 4 models Alliance of Genome Resources
Williams-Beuren syndrome GTF2IRD1 Gtf2ird1* 6 models Alliance of Genome Resources
Williams-Beuren syndrome LIMK1 Limk1* 3 models Alliance of Genome Resources
Williams-Beuren syndrome LOX Lox* 1 model Alliance of Genome Resources
Williams-Beuren syndrome SRC Src* 1 model Alliance of Genome Resources
Williams-Beuren syndrome BAZ1B Baz1b* 6 models Alliance of Genome Resources
Williams-Beuren syndrome CLIP2 Clip2* 3 models Alliance of Genome Resources
Williams-Beuren syndrome DLG4 Dlg4* 1 model Alliance of Genome Resources
Williams-Beuren syndrome FZD9 Fzd9* 4 models Alliance of Genome Resources
Wolf-Hirschhorn syndrome NSD2 Nsd2* 6 models Alliance of Genome Resources
Wolf-Hirschhorn syndrome FGFRL1 Fgfrl1* 1 model Alliance of Genome Resources
     chromosome 15q24 deletion syndrome SIN3A* Sin3a   Alliance of Genome Resources
chromosome 5q deletion syndrome RPS14* Rps14   Alliance of Genome Resources
DiGeorge syndrome ARVCF* Arvcf 2 models Alliance of Genome Resources
DiGeorge syndrome DVL1*, DVL1P1* Dvl1   Alliance of Genome Resources
DiGeorge syndrome UFD1* Ufd1 2 models Alliance of Genome Resources
Down syndrome SOD1* Sod1   Alliance of Genome Resources
Down syndrome SNAP25* Snap25   Alliance of Genome Resources
Down syndrome MTHFR* Mthfr   Alliance of Genome Resources
Down syndrome MTHFD1* Mthfd1   Alliance of Genome Resources
Down syndrome MMP9* Mmp9   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 8 EPCAM* Epcam   Alliance of Genome Resources
NFIA-related disorder NFIA* Nfia   Alliance of Genome Resources
Rubinstein-Taybi syndrome EP300* Ep300   Alliance of Genome Resources
SATB2-associated syndrome SATB2* Satb2   Alliance of Genome Resources
syndactyly type 1 IHH* Ihh   Alliance of Genome Resources
syndromic X-linked intellectual disability Lubs type MECP2* Mecp2 1 model Alliance of Genome Resources
thrombocytopenia-absent radius syndrome RBM8A* Rbm8a, Rbm8a2   Alliance of Genome Resources
Williams-Beuren syndrome ELN* Eln 2 models Alliance of Genome Resources
Williams-Beuren syndrome FKBP6* Fkbp6 2 models Alliance of Genome Resources
Williams-Beuren syndrome FZD3* Fzd3   Alliance of Genome Resources
Williams-Beuren syndrome LAT2* Lat2 2 models Alliance of Genome Resources
Williams-Beuren syndrome NCF1*, NCF1B, NCF1C Ncf1   Alliance of Genome Resources
Williams-Beuren syndrome RCC1L* Rcc1l   Alliance of Genome Resources
Williams-Beuren syndrome BUD23* Bud23 2 models Alliance of Genome Resources
Williams-Beuren syndrome DNAJC30* Dnajc30 2 models Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  chromosomal deletion syndrome Del(10Prmt2-Pdxk)4Yey 1 model
  chromosomal deletion syndrome Del(XArmcx5-Nxf3)3Jw 2 models
  chromosomal deletion syndrome Del(XNxf2-Nxf3)1Jw 2 models
  chromosomal disease T(16;17)43H 1 model
  chromosomal duplication syndrome Is(In8B2-8B3.1;6C1)1Tshir 1 model
  chromosomal duplication syndrome Lse 1 model
  chromosome 10q23 deletion syndrome Tg(CAG-Bmpr1a*,-lacZ)1Nobs 1 model
  chromosome 15q13.3 microdeletion syndrome Del(7Chrna7-Fan1)3Arte 1 model
  chromosome 15q13.3 microdeletion syndrome Del(7Chrna7-Fan1)1Mima 1 model
  chromosome 22q11.2 deletion syndrome, distal Del(16Es2el-Ufd1l)217Bld 2 models
  chromosome 22q11.2 deletion syndrome, distal Del(16Pi4ka-Hira)1Atai 1 model
  chromosome 22q13 duplication syndrome Tg(Shank3-EGFP)1Hzo 1 model
  DiGeorge syndrome Del(16Dgcr2-Hira)1Rak 1 model
  DiGeorge syndrome Del(16Dgcr2-Hira)3Aam 1 model
  DiGeorge syndrome Del(16Es2el-Ufd1l)217Bld 1 model
  Down syndrome Dp(16Hspa13-App)2Yah 1 model
  Down syndrome Tg(Dyrk1a)189N3Yah 1 model
  Down syndrome Tg(DYRK1A)36Wjs 1 model
  Down syndrome T(16;17)43H 1 model
  Down syndrome Rb(12.Ts171665Dn)2Cje 1 model
  Down syndrome Dp(17Abcg1-Cbs)1Yah 1 model
  Down syndrome Dp(16Lipi-Zbtb21)1TybEmcf 1 model
  Down syndrome Ts(1716)65Dn 5 models
  Down syndrome Ts(16C-tel)1Cje 3 models
  Down syndrome Tg(RCAN1)M9Mapr 1 model
  Down syndrome Tg(MT1A-Dyrk1a)#Xest 1 model
  Down syndrome Tg(MT1A-Dyrk1a)33Xest 1 model
  Down syndrome Tg(MT1A-Dyrk1a)9Xest 1 model
  Potocki-Lupski syndrome Tg(tetO-Rai1,-EGFP)463Walz 1 model
  Potocki-Lupski syndrome Tg(tetO-Rai1,-EGFP)479Walz 1 model
  Prader-Willi syndrome Del(7Herc2-Mkrn3)13FRdni 1 model
  Prader-Willi syndrome T(7;18)50H 1 model
  Prader-Willi syndrome T(7;18)50H 1 model
  Prader-Willi syndrome Del(7Ipw-Snord116)1Jbro 1 model
  Prader-Willi syndrome Snord116 2 models
  Prader-Willi syndrome Tg(Igh-Lmp2a)13FRdni 1 model
  Smith-Magenis syndrome Del(11Cops3-Rnf112)1Jrl 1 model
  Smith-Magenis syndrome Del(11Cops3-Gid4)2Jrl 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)3Hzo 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo 2 models
  velocardiofacial syndrome Del(16Dgcr2-Hira)1Rak 1 model
  Williams-Beuren syndrome Del(5Gtf2i-Fkbp6)1Vcam 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit73-D5Mit351)5Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit388-D5Mit351)4Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit148-Qdpr)2Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5Letm1-D5Mit81)3Jcs 1 model