Del(11Cops3-Gid4)2Jrl Cytogenetic Marker 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
  chromosomal deletion
• IDs
  MGI:3521942

Location &
Maps

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

• Genetic Map
  Chromosome 11, Syntenic
• Mapping Data
  2 experiments

Human Diseases

• Diseases
  1 with Del(11Cops3-Gid4)2Jrl 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-Gid4)2Jrl/+	involves: 129S7/SvEvBrd * C57BL/6	J:94405	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
  11 phenotypes from 1 allele in 1 genetic background
  3 phenotype references
  

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

References

• 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