DiGeorge syndrome Disease Ontology Browser

Disease Ontology Browser

DiGeorge syndrome (DOID:11198)
Alliance: disease page
Synonyms: 22q11.2 deletion syndrome; DiGeorge sequence; DiGeorge's syndrome; Pharyngeal pouch syndrome
Alt IDs: OMIM:188400, ICD10CM:D82.1, ICD9CM:279.11, MESH:D004062, NCI:C2989, UMLS_CUI:C0012236
Definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.

Term Browser
Genes (24)
Models (45)

Disease References using Mouse Models (34)

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Tbx1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Tbx1tm2Bld/\Tbx1tm2Bld	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View
\Tbx1tm1Dsr/\Tbx1tm1Dsr	either: 129/Sv or (involves: 129/Sv * C57BL/6)	J:93588	View
\Tbx1tm1.1Dsr/\Tbx1tm1.1Dsr	either: 129/Sv or (involves: 129/Sv * C57BL/6)	J:93588	View
\Tbx1tm1Pa/\Tbx1tm1Pa	either: (involves: 129) or (involves: 129 * C57BL/6) or (involves: 129 * C57BL/6 * Swiss Webster)	J:70730	View
\Tbx1tm1Bem/\Tbx1tm1Bem	FVB.Cg-Tbx1^tm1Bem	J:91664	View
\Tbx1tm2Bld/\Tbx1+	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View
\Tbx1tm1Dsr/\Tbx1+	either: 129/Sv or (involves: 129/Sv * C57BL/6)	J:93588	View
\Tbx1tm1Bld/\Tbx1tm1Bld	involves: 129S7/SvEvBrd * C57BL/6	J:67409	View
\Del(16Dgcr2-Hira)1Rak/\+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	J:67796	View
\Tbx1tm1Pa/\Tbx1tm1Pa	involves: 129S1/Sv * 129X1/SvJ	J:94411	View
\Tbx1tm1.1Dsr/\Tbx1tm1.1Dsr	involves: 129 * C57BL/6J	J:183770, J:217210, J:270507	View
\Del(16Dgcr2-Hira)3Aam/\+	involves: 129S7/SvEvBrd	J:141432	View
\Tbx1tm1.1Dsr/\Tbx1+	either: 129/Sv or (involves: 129/Sv * C57BL/6)	J:93588	View
\Kat6atm1Avo/\Kat6a+ \Tbx1tm1Bld/\Tbx1+	involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6	J:188772	View
\Tbx1tm1Bld/\Tbx1+	involves: 129S7/SvEvBrd * C57BL/6	J:67409	View
\Tbx1tm1Pa/\Tbx1+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	J:70730	View
\Tbx1tm1Bem/\Tbx1+	FVB.Cg-Tbx1^tm1Bem	J:91664	View
\Tbx1tm1Pa/\Tbx1+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster	J:70730	View
\Tbx1tm1Bem/\Tbx1+	involves: 129/Sv * C57BL/6J * SJL	J:67796	View
\Tbx1tm1Bld/\Tbx1tm2Bld	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View
\Tbx1tm2.1Bem/\Tbx1tm2.2Bem \Foxg1tm1(cre)Skm/\Foxg1+	involves: 129 * C57BL/6J * SJL * Swiss Webster	J:105980, J:109536	View
\Nkx2-5tm1(cre)Rjs/\Nkx2-5+ \Tbx1tm1Bld/\Tbx1tm3Bld	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View
\Tbx1tm1Bld/\Tbx1tm3Bld \Tg(Myh6-cre)2182Mds/0	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View
\Tbx1tm1Bld/\Tbx1tm3Bld \Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Aldh1a2

Allelic Composition	Genetic Background	Reference	Phenotypes
\Aldh1a2tm1Dll/\Aldh1a2tm1Ipc	involves: CD-1	J:81969	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: b2b954Clo

Allelic Composition	Genetic Background	Reference	Phenotypes
\b2b954Clo/\b2b954Clo	C57BL/6J-b2b954Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: b2b1941Clo

Allelic Composition	Genetic Background	Reference	Phenotypes
\b2b1941Clo/\b2b1941Clo	C57BL/6J-b2b1941Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: b2b2696Clo

Allelic Composition	Genetic Background	Reference	Phenotypes
\b2b2696Clo/\b2b2696Clo	C57BL/6J-b2b2696Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Chrd

Allelic Composition	Genetic Background	Reference	Phenotypes
\Chrdtm1Emdr/\Chrdtm1Emdr	either: B6SJL.129-Chrd^tm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)	J:83662	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Crkl

Allelic Composition	Genetic Background	Reference	Phenotypes
\Crkltm1Imo/\Crkltm1Imo	involves: 129S4/SvJaeSor * C57BL/6J	J:67826	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Dicer1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Dicer1tm1Bdh/\Dicer1tm1Bdh \H2az2Tg(Wnt1-cre)11Rth/\H2az2+	involves: 129 * C57BL/6 * CBA/J	J:166758	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Dock1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Dock1b2b3190Clo/\Dock1b2b3190Clo	C57BL/6J-Dock1^b2b3190Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Fgf8

Allelic Composition	Genetic Background	Reference	Phenotypes
\Fgf8tm1.3Mrt/\Fgf8tm1.4Mrt \Tg(Tbx1-cre)1Joe/0	involves: 129P2/OlaHsd	J:88814	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Foxn1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Foxn1nu/\Foxn1nu	Not Specified	J:202300	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Hoxa3

Allelic Composition	Genetic Background	Reference	Phenotypes
\Hoxa3tm1Mrc/\Hoxa3tm1Mrc	involves: 129S7/SvEvBrd	J:17753	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Kat6a

Allelic Composition	Genetic Background	Reference	Phenotypes
\Kat6atm1Avo/\Kat6atm1Avo	involves: 129/Sv * BALB/c * FVB/N	J:188772	View
\Kat6atm1Avo/\Kat6a+ \Tbx1tm1Bld/\Tbx1+	involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6	J:188772	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Ndst1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Ndst1b2b2230Clo/\Ndst1b2b2230Clo	C57BL/6J-Ndst1^b2b2230Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Plxnd1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Plxnd1b2b1863Clo/\Plxnd1b2b1863Clo	C57BL/6J-Plxnd1^b2b1863Clo	J:175213	View
\Plxnd1b2b3150Clo/\Plxnd1b2b3150Clo	C57BL/6J-Plxnd1^b2b3150Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: pta

Allelic Composition	Genetic Background	Reference	Phenotypes
\pta/\pta	C57BL/6J-pta	J:94456	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Tgfbr2

Allelic Composition	Genetic Background	Reference	Phenotypes
\Tgfbr2tm1Karl/\Tgfbr2tm1Karl \H2az2Tg(Wnt1-cre)11Rth/\H2az2+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	J:96359	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Vegfa

Allelic Composition	Genetic Background	Reference	Phenotypes
\Vegfatm1Pec/\Vegfatm1Pec	involves: 129S1/Sv * 129X1/SvJ	J:81698	View
\Vegfatm4Pec/\Vegfatm4Pec	involves: 129S1/Sv * 129X1/SvJ	J:81698	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Gene: Zfp366

Allelic Composition	Genetic Background	Reference	Phenotypes
\Zfp366b2b2834Clo/\Zfp366b2b2834Clo	C57BL/6J-Zfp366^b2b2834Clo	J:175213	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
\Del(16Dgcr2-Hira)1Rak/\+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	J:67796	View
\Del(16Dgcr2-Hira)3Aam/\+	involves: 129S7/SvEvBrd	J:141432	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
\Del(16Dgcr2-Hira)1Rak/\+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	J:67796	View
\Del(16Dgcr2-Hira)3Aam/\+	involves: 129S7/SvEvBrd	J:141432	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Complex/Cluster/Region: Del(16Dgcr2-Hira)1Rak

Allelic Composition	Genetic Background	Reference	Phenotypes
\Del(16Dgcr2-Hira)1Rak/\+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	J:67796	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Complex/Cluster/Region: Del(16Dgcr2-Hira)3Aam

Allelic Composition	Genetic Background	Reference	Phenotypes
\Del(16Dgcr2-Hira)3Aam/\+	involves: 129S7/SvEvBrd	J:141432	View

Mouse Models

Human Disease Modeled: DiGeorge syndrome
Associated Mouse Cytogenetic Marker: Del(16Es2el-Ufd1l)217Bld

Allelic Composition	Genetic Background	Reference	Phenotypes
\Del(16Es2el-Ufd1l)217Bld/\+	involves: 129S7/SvEvBrd * C57BL/6	J:57757	View

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