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

Mapping data(1)
Mutations,
alleles, and
phenotypes
All mutations/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:211625 Chun S, et al., Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. Science. 2014 Jun 6;344(6188):1178-82
All references(18)
Disease annotation references (3)

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
08/12/2014
MGI 5.19
The Jackson Laboratory