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Del(11Cops3-Gid4)2Jrl Complex/Cluster/Region Detail
Summary
  • Symbol
    Del(11Cops3-Gid4)2Jrl
  • Name
    deletion, Chr 11, James R Lupski 2
  • Synonyms
    Del(11Cops3-4933439F18Rik)2Jrl, Del(11Csn3-4933439F18Rik)2Jrl, Del2Jrl, Df(11)17-1
  • Feature Type
    complex/cluster/region
  • IDs
    MGI:3521942
Location & Maps
more
  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome 11, Syntenic
  • Mapping Data
    2 experiments
Human Diseases
more
  • Diseases
    1 with Del(11Cops3-Gid4)2Jrl 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
    11 phenotypes from 1 allele in 1 genetic background
    3 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
References
more
  • Summaries
    All 4
    Diseases 1
    Phenotypes 3
  • Earliest
    J:94405 Yan J, et al., Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet. 2004 Nov 1;13(21):2613-24
  • Latest
    J:125240 Yan J, et al., Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet. 2007 Mar;80(3):518-25

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
11/22/2016
MGI 6.06
The Jackson Laboratory