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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 from the current reference assembly.
  • 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
      
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
    28 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
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
neoplasm
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 30
    Diseases 3
    Phenotypes 28
  • 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:342026 Hasegawa Y, et al., Microglial cannabinoid receptor type 1 mediates social memory deficits in mice produced by adolescent THC exposure and 16p11.2 duplication. Nat Commun. 2023 Oct 25;14(1):6559

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
12/10/2024
MGI 6.24
The Jackson Laboratory