About   Help   FAQ
Del(16Dgcr2-Hira)1Rak Complex/Cluster/Region Detail
Summary
  • Symbol
    Del(16Dgcr2-Hira)1Rak
  • Name
    deletion, Chr 16, Raju Kucherlapati 1
  • Synonyms
    Del1Rak
  • Feature Type
    complex/cluster/region
  • IDs
    MGI:3702641
Location & Maps
more
  • Genetic Map
    Chromosome 16, Syntenic
Human Diseases
more
  • Diseases
    2 with Del(16Dgcr2-Hira)1Rak mouse models

Human Disease Mouse Models
       DiGeorge Syndrome; DGS   OMIM: 188400 View 1 model
Velocardiofacial Syndrome   OMIM: 192430 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    9 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
Polymorphisms
less
  • SNPs within 2kb
    1759 from dbSNP Build 142
References
more
  • Summaries
    All 10
    Diseases 2
    Phenotypes 9
  • Earliest
    J:67796 Merscher S, et al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001 Feb 23;104(4):619-29
  • Latest
    J:213451 Karpinski BA, et al., Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech. 2014 Feb;7(2):245-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory