velocardiofacial syndrome Disease Ontology Browser

Disease Ontology Browser

velocardiofacial syndrome (DOID:12583)
Alliance: disease page
Synonyms: Shprintzen syndrome; VCF-Velocardiofacial syndrome
Alt IDs: OMIM:192430, ICD10CM:Q93.81, ICD9CM_2006:758.32, ICD9CM:758.32, MESH:D004062, UMLS_CUI:C0220704
Definition: A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.

Term Browser
Genes (9)
Models (13)

Disease References using Mouse Models (9)

Mouse Models

Human Disease Modeled: velocardiofacial syndrome
Associated Mouse Gene: Tbx1

Allelic Composition	Genetic Background	Reference	Phenotypes
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
Del(16Dgcr2-Hira)1Rak/+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	J:67796	View
Tbx1tm1Bem/Tbx1+	FVB.Cg-Tbx1^tm1Bem	J:91664	View
Tbx1tm1Bem/Tbx1+	involves: 129/Sv * C57BL/6J * SJL	J:67796	View
Tbx1tm1Bld/Tbx1tm2Bld	involves: 129S7/SvEvBrd * C57BL/6	J:91013	View

Mouse Models

Human Disease Modeled: velocardiofacial syndrome
Associated Mouse Gene: b2b1941Clo

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

Mouse Models

Human Disease Modeled: velocardiofacial 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: velocardiofacial 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: velocardiofacial syndrome
Associated Mouse Gene: Ednra

Allelic Composition	Genetic Background	Reference	Phenotypes
Ednratm1Ywa/Ednratm1Ywa	129S/SvEv-Ednra^tm1Ywa	J:46639	View

Mouse Models

Human Disease Modeled: velocardiofacial syndrome
Associated Mouse Gene: Mapk1

Allelic Composition	Genetic Background	Reference	Phenotypes
Mapk1tm1Gela/Mapk1tm1Gela H2az2Tg(Wnt1-cre)11Rth/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	J:144862	View

Mouse Models

Human Disease Modeled: velocardiofacial syndrome
Associated Mouse Gene: Prickle1

Allelic Composition	Genetic Background	Reference	Phenotypes
Prickle1b2b019Clo/Prickle1b2b019Clo	C57BL/6J-Prickle1^b2b019Clo	J:175213	View

Mouse Models

Human Disease Modeled: velocardiofacial syndrome
Associated Mouse Gene: Trappc10

Allelic Composition	Genetic Background	Reference	Phenotypes
Trappc10b2b2613Clo/Trappc10b2b2613Clo	C57BL/6J-Trappc10^b2b2613Clo	J:175213	View

Mouse Models

Human Disease Modeled: velocardiofacial 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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