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

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome Unknown

Human Diseases

• Diseases
  1 with Rb(12.Ts17<16>65Dn)2Cje mouse models

Human Disease

Mouse Models

Down syndrome

IDs

Down syndrome      

DOID:14250
ICD10CM:Q90
ICD9CM:758.0
MESH:D004314
NCI:C2993
OMIM:190685
ORDO:870
UMLS_CUI:C0013080

View 1 model

Mouse Models

Human Disease Modeled: Down syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Rb(12.Ts171665Dn)2Cje/0	involves: C3H/HeSnJ * C57BL/6JEi	J:96650	View

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

• Phenotype Summary
  8 phenotypes from 1 allele in 2 genetic backgrounds
  1 phenotype from multigenic genotypes
  14 phenotype references
  

• All Mutations and Alleles
  1
• Find Mice (IMSR)
  1 strains or lines available

References

• Summaries
  All 15

  Diseases 1

  Phenotypes 14
• 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:347667 D'Acunzo P, et al., Mitovesicles secreted into the extracellular space of brains with mitochondrial dysfunction impair synaptic plasticity. Mol Neurodegener. 2024 Apr 14;19(1):34