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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
more
  • Diseases
    2 with Del(16Es2el-Ufd1l)217Bld mouse models

Human Disease Mouse Models
       Chromosome 22q11.2 Deletion Syndrome, Distal   OMIM: 611867 View 2 models
DiGeorge Syndrome; DGS   OMIM: 188400 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
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  • Phenotype Summary
    19 phenotypes from 1 allele in 4 genetic backgrounds
    10 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

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

Click cells to view annotations.
  • All Mutations and 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.
References
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  • Summaries
    All 19
    Diseases 3
    Phenotypes 17
  • 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:219361 Fuchs JC, et al., A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome. Hum Mol Genet. 2015 Apr 1;24(7):1869-82

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
04/19/2016
MGI 6.03
The Jackson Laboratory