About   Help   FAQ
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
less
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • Genetic Map
    Chromosome Unknown
Human Diseases
more
  • Diseases
    1 with Rb(12.Ts17<16>65Dn)2Cje mouse models

Human Disease Mouse 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
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    13 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.
References
more
  • Summaries
    All 14
    Diseases 1
    Phenotypes 13
  • 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:338544 Im E, et al., Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr(682)-phosphorylated APP betaCTF. Sci Adv. 2023 Jul 28;9(30):eadg1925

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/09/2024
MGI 6.23
The Jackson Laboratory