Del(11Cops3-Rnf112)1Jrl Cytogenetic Marker 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
  chromosomal deletion
• IDs
  MGI:3521936

Location &
Maps

• Sequence Map
  Chr11:59708621-61344957 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with Del(11Cops3-Rnf112)1Jrl mouse models

Human Disease

Mouse Models

Smith-Magenis syndrome

IDs

Smith-Magenis syndrome      

DOID:0060768
ICD10CM:Q93.5
MESH:D058496
OMIM:182290
ORDO:819

View 1 model

Mouse Models

Human Disease Modeled: Smith-Magenis syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(11Cops3-Rnf112)1Jrl/+	involves: 129S7/SvEvBrd * C57BL/6	J:83302	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
  23 phenotypes from 1 allele in 1 genetic background
  3 phenotypes from multigenic genotypes
  8 phenotype references
  

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

References

• 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