About   Help   FAQ
Del(16Es2el-Ufd1l)217Bld
Complex/Cluster/Region Detail
 Symbol
Name
ID
Del(16Es2el-Ufd1l)217Bld
deletion, Chr 16, Antonio Baldini
MGI:2677647
Synonyms del(16) (Es2-Ufd1l), Del217Bld, Df1
Feature Type complex/cluster/region
Genetic Map
Chromosome 16
Syntenic

Mapping data(1)
Alleles
and
phenotypes
All alleles(1) : Targeted(1)
 
This 1.2 Mb deletion, extending distally from Es2el to Ufd1l, recapitulates the human deletion del22q11 associated with DiGeorge syndrome. Heterozygous mutant mice exhibit cardiovascular defects similar to the most clinically severe aspects of DiGeorge syndrome.
 
Human Diseases Modeled Using Mouse Del(16Es2el-Ufd1l)217Bld (2)    Alleles Annotated to Human Diseases(1)   
References (Earliest) J:57757 Lindsay EA, et al., Congenital heart disease in mice deficient for the DiGeorge syndrome region [see comments]. Nature. 1999 Sep 23;401(6751):379-83
(Latest) J:201966 Toritsuka M, et al., Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proc Natl Acad Sci U S A. 2013 Oct 22;110(43):17552-7
All references(17)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory