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Del(16Es2el-Ufd1l)217Bld Cytogenetic Marker Detail
Summary
  • Symbol
    Del(16Es2el-Ufd1l)217Bld
  • Name
    deletion, Chr 16, Antonio Baldini 217
  • Synonyms
    del(16) (Es2-Ufd1l), Del217Bld, Df1
  • Feature Type
    chromosomal deletion
  • IDs
    MGI:2677647
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome 16, Syntenic
  • Mapping Data
    1 experiment
Human Diseases
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  • Diseases
    2 with Del(16Es2el-Ufd1l)217Bld mouse models

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 1 allele in 4 genetic backgrounds
    13 phenotypes from multigenic genotypes
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
References
more
  • Summaries
    All 24
    Diseases 3
    Phenotypes 22
  • 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:254040 Eom TY, et al., Schizophrenia-Related Microdeletion Impairs Emotional Memory through MicroRNA-Dependent Disruption of Thalamic Inputs to the Amygdala. Cell Rep. 2017 May 23;19(8):1532-1544

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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory