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Rb(12.Ts171665Dn)2Cje Cytogenetic Marker Detail
Summary
  • Symbol
    Rb(12.Ts171665Dn)2Cje
  • Name
    Robertsonian translocation, Chr 12 and T17<16>Dn, Charles J Epstein 2
  • Synonyms
    Rb(12.T171665Dn)2Cje, Ts(Rb(12.1716))2Cje
  • Feature Type
    Robertsonian fusion
  • IDs
    MGI:3531160
Location & Maps
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  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome Unknown
Human Diseases
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  • Diseases
    1 with Rb(12.Ts17<16>65Dn)2Cje mouse models

Human Disease Mouse Models
       Down Syndrome   OMIM: 190685 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    7 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.
References
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  • Summaries
    All 8
    Diseases 7
    Phenotypes 7
  • Earliest
    J:2300 Charles CH, et al., cDNA sequence of a growth factor-inducible immediate early gene and characterization of its encoded protein. Oncogene. 1992 Jan;7(1):187-90
  • Latest
    J:208117 Kaur G, et al., Glutamatergic Transmission Aberration: A Major Cause of Behavioral Deficits in a Murine Model of Down's Syndrome. J Neurosci. 2014 Apr 9;34(15):5099-106

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory