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Del(11Cops3-Rnf112)1Jrl Complex/Cluster/Region Detail
Summary
  • Symbol
    Del(11Cops3-Rnf112)1Jrl
  • Name
    deletion, Chr 11, James R Lupski 1
  • Synonyms
    Del(11Cops3-Zfp179)1Jrl, Del(11Csn3-Zfp179)1Jrl, Del1Jrl, Df(11)17
  • Feature Type
    complex/cluster/region
  • IDs
    MGI:3521936
Location & Maps
more
  • Genetic Map
    Chromosome 11, Syntenic
  • Mapping Data
    1 experiment
Human Diseases
more
  • Diseases
    1 with Del(11Cops3-Rnf112)1Jrl mouse models

Human Disease Mouse Models
       Smith-Magenis Syndrome; SMS   OMIM: 182290 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    8 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.
  • All Mutations and Alleles
    1
  • Targeted
    1
Polymorphisms
less
  • SNPs within 2kb
    11299 from dbSNP Build 142
References
more
  • Summaries
    All 9
    Diseases 1
    Phenotypes 8
  • Earliest
    J:83302 Walz K, et al., Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May;23(10):3646-55
  • Latest
    J:185193 Lacaria M, et al., A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men. PLoS Genet. 2012 May;8(5):e1002713

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
07/19/2016
MGI 6.04
The Jackson Laboratory