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Human Disease and Mouse Model Detail
Human Disease

Term: Velocardiofacial Syndrome
OMIM ID: 192430

Synonyms Chromosome 22q11.2 Deletion Syndrome; Shprintzen Vcf Syndrome; VCF Syndrome; VCFS
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.
     
b2b019Clo none identified
Chrd CHRD
Crkl CRKL
Ednra EDNRA
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Dgcr14 DGCR14
Dgcr2 DGCR2
Dgcr6 DGCR6
Dgcr8 DGCR8
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse 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.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Tbx1tm1Bld/Tbx1tm2Bld   involves: 129S7/SvEvBrd * C57BL/6 J:91013
Tbx1tm1Pa/Tbx1tm1Pa   either: (involves: 129) or (involves: 129 * C57BL/6) or (involves: 129 * C57BL/6 * Swiss Webster) J:70730
Tbx1tm1Rak/Tbx1+   involves: 129/Sv * C57BL/6J * SJL J:67796
Tbx1tm1Rak/Tbx1+   FVB.Cg-Tbx1tm1Rak J:91664
Tbx1tm1Rak/Tbx1tm1Rak   FVB.Cg-Tbx1tm1Rak J:91664
Models with phenotypic similarity to human disease where etiologies are distinct.2
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
Ednratm1Ywa/Ednratm1Ywa   129S/SvEv J:46639
Models with phenotypic similarity to human diseases involving genes where ortholog is unknown.3
b2b019Clo/b2b019Clo   C57BL/6J-b2b019Clo J:175213
Models involving transgenes or other mutation types.4
Del(16Dgcr2-Hira)1Rak/+   involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL J:67796

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.

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