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Human Disease and Mouse Model Detail
Human Disease

Term: DiGeorge Syndrome; DGS
OMIM ID: 188400

Synonyms Chromosome 22q11.2 Deletion Syndrome; Hypoplasia of Thymus and Parathyroids
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...
Tbx1 TBX1
  mousehuman...both mouse and human orthologous genes.
     
Aldh1a2 ALDH1A2
b2b954Clo none identified
Chrd CHRD
Crkl CRKL
Dicer1 DICER1
Fgf8 FGF8
Foxg1 FOXG1
Hoxa3 HOXA3
Kat6a KAT6A
Nkx2-5 NKX2-5
pta none identified
Tgfbr2 TGFBR2
Vegfa VEGFA
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Del(16Dgcr2-Hira)1Rak   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Del(16Es2el-Ufd1l)217Bld

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Foxg1tm1(cre)Skm/Foxg1+
Tbx1tm1.1Bem/Tbx1tm1.2Bem
5 involves: 129/Sv * C57BL/6 * SJL * Swiss Webster J:105980, J:109536
Kat6atm1Avo/Kat6a+
Tbx1tm1Bld/Tbx1+
  involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6 J:188772
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld
5 involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm1.1Dsr/Tbx1+   either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93588
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr   either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93588
Tbx1tm1Bld/Tbx1tm2Bld   involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm1Bld/Tbx1+   involves: 129S7/SvEvBrd * C57BL/6 J:67409
Tbx1tm1Bld/Tbx1tm1Bld   involves: 129S7/SvEvBrd * C57BL/6 J:67409
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0
5 involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Myh6-cre)2182Mds/0
5 involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm1Dsr/Tbx1+   either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93588
Tbx1tm1Dsr/Tbx1tm1Dsr   either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93588
Tbx1tm1Pa/Tbx1tm1Pa   either: (involves: 129) or (involves: 129 * C57BL/6) or (involves: 129 * C57BL/6 * Swiss Webster) J:70730
Tbx1tm1Pa/Tbx1+   involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ J:70730
Tbx1tm1Pa/Tbx1+   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster J:70730
Tbx1tm1Pa/Tbx1tm1Pa   involves: 129S1/Sv * 129X1/SvJ J:94411
Tbx1tm1Rak/Tbx1+   involves: 129/Sv * C57BL/6J * SJL J:67796
Tbx1tm1Rak/Tbx1+   FVB.Cg-Tbx1tm1Rak J:91664
Tbx1tm1Rak/Tbx1tm1Rak   FVB.Cg-Tbx1tm1Rak J:91664
Tbx1tm2Bld/Tbx1+   involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm2Bld/Tbx1tm2Bld   involves: 129S7/SvEvBrd * C57BL/6 J:91013
Models with phenotypic similarity to human disease where etiologies are distinct.2
Aldh1a2tm1Dll/Aldh1a2tm1Ipc   involves: CD-1 J:81969
Chrdtm1Emdr/Chrdtm1Emdr   either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J) J:83662
Crkltm1Imo/Crkltm1Imo   involves: 129S4/SvJaeSor * C57BL/6J J:67826
Dicer1tm1Bdh/Dicer1tm1Bdh
Tg(Wnt1-cre)11Rth/0
5 involves: 129 * C57BL/6 * CBA/J J:166758
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tbx1-cre)1Joe/0
5 Not Specified J:88814
Hoxa3tm1Mrc/Hoxa3tm1Mrc   involves: 129S7/SvEvBrd J:17753
Kat6atm1Avo/Kat6atm1Avo   involves: 129/Sv * BALB/c * FVB J:188772
Tgfbr2tm1Karl/Tgfbr2tm1Karl
Tg(Wnt1-cre)11Rth/0
5 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:96359
Vegfatm1Pec/Vegfatm1Pec   involves: 129S1/Sv * 129X1/SvJ J:81698
Vegfatm4Pec/Vegfatm4Pec   involves: 129S1/Sv * 129X1/SvJ J:81698
Models with phenotypic similarity to human diseases involving genes where ortholog is unknown.3
b2b954Clo/b2b954Clo   C57BL/6J-b2b954Clo J:175213
pta/pta   C57BL/6J-pta J:94456
Models involving transgenes or other mutation types.4
Del(16Dgcr2-Hira)1Rak/+   involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL J:67796
Del(16Es2el-Ufd1l)217Bld/+   involves: 129S7/SvEvBrd * C57BL/6 J:57757

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Genotypes include cases where the mouse structural gene or the human ortholog has not been identified.
4Models involving transgenes or other mutation types may also appear in other sections of the table.
5Conditionally targeted allele(s)

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