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:190908 Earls LR, et al., Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. J Neurosci. 2012 Oct 10;32(41):14132-44
All references(16)