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Human Disease and Mouse Model Detail
Human Disease

Term: Down Syndrome
OMIM ID: 190685

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Nfatc2 NFATC2
Nfatc3 NFATC3
Nfatc4 NFATC4
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Gata1 GATA1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Dp(10Prmt2-Pdxk)2Yey   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Dp(16Cbr1-ORF9)1Rhr
Dp(16Lipi-Zfp295)1Yey
Dp(17Abcg1-Rrp1b)3Yey
Rb(12.Ts17<16>65Dn)2Cje
Tc(Hsa21)1TybEmcf
Tg(DYRK1A)36Wjs
Tg(Dyrk1a)#Jmd
Tg(MT1A-Dyrk1a)33Xest
Tg(MT1A-Dyrk1a)Xest
Tg(MT1A-Dyrk1a)#Xest
Tg(RCAN1)M9Mapr
Ts(16C-tel)1Cje
Ts(17<16>)65Dn

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Nfatc2tm1Glm/Nfatc2tm1Glm
Nfatc4tm1Grc/Nfatc4tm1Grc
  involves: 129S2/SvPas J:109139
Nfatc2tm1Glm/Nfatc2tm1Glm
Nfatc3tm1Glm/Nfatc3tm1Glm
Nfatc4tm1Grc/Nfatc4tm1Grc
  involves: 129S2/SvPas J:109139
Nfatc3tm1Glm/Nfatc3tm1Glm
Nfatc4tm1Grc/Nfatc4tm1Grc
  involves: 129S2/SvPas J:109139
Models involving transgenes or other mutation types.2
Dp(10Prmt2-Pdxk)2Yey/0
Dp(16Lipi-Zfp295)1Yey/0
Dp(17Abcg1-Rrp1b)3Yey/0
  B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zfp295)1Yey Dp(17Abcg1-Rrp1b)3Yey J:161325
Dp(16Cbr1-ORF9)1Rhr/0   involves: 129S6/SvEvTac J:184564
Dp(16Cbr1-ORF9)1Rhr/0   involves: 129S6/SvEvTac * C3H/HeSnJ * C57BL/6Ei J:148478
Rb(12.Ts171665Dn)2Cje/0   involves: C3H/HeSnJ * C57BL/6JEi J:96650
Tc(HSA21)1TybEmcf/0   involves: 129S2/SvPas * 129S8/SvEv * C57BL/6J J:101383
Tg(Dyrk1a)#Jmd/0   B6.129S2/SvPas-Tg(Dyrk1a)#Jmd J:182294
Tg(DYRK1A)36Wjs/0   involves: C57BL/6NCrjBgi J:111293
Tg(MT1A-Dyrk1a)#Xest/0   involves: C57BL/6 * SJL J:71821
Tg(MT1A-Dyrk1a)33Xest/0   involves: C57BL/6 * SJL J:71821
Tg(MT1A-Dyrk1a)Xest/0   involves: C57BL/6 * SJL J:140647
Tg(RCAN1)M9Mapr/?   involves: C57BL/6 * CBA J:184606
Ts(16C-tel)1Cje/0   involves: C57BL/6J * Rb(11.16)2H * Rb(16.17)32Lub J:174270
Ts(16C-tel)1Cje/0   involves: C3H/HeSnJ * C57BL/6J * CD-1 * Rb(16.17)32Lub * STOCK Rb(11.16)2H/H J:47907
Ts(1716)65Dn/0   B6EiC3Sn a/A-Ts(1716)65Dn/J J:170195
Ts(1716)65Dn/0   B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ J:153579
Ts(1716)65Dn/0   involves: C3H/HeSnJ * C57BL/6JEi * DBA/2J J:94569, J:96650
Ts(1716)65Dn/0   involves: C3H/HeJ * C57BL/6J * DBA/2J J:174270

1Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory