Del(16Es2el-Ufd1l)217Bld Cytogenetic Marker Detail

Summary

• Symbol
  Del(16Es2el-Ufd1l)217Bld
• Name
  deletion, Chr 16, Antonio Baldini 217
• Synonyms
  del(16) (Es2-Ufd1l), Del217Bld, Df1

• Feature Type
  chromosomal deletion
• IDs
  MGI:2677647

Location &
Maps

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

• Genetic Map
  Chromosome 16, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  2 with Del(16Es2el-Ufd1l)217Bld mouse models

Human Disease

Mouse Models

chromosome 22q11.2 deletion syndrome, distal

IDs

chromosome 22q11.2 deletion syndrome, distal      

DOID:0060413
MESH:C567511
OMIM:611867
ORDO:261330

View 2 models

Mouse Models

Human Disease Modeled: chromosome 22q11.2 deletion syndrome, distal

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(16Es2el-Ufd1l)217Bld/+	B6.129S7-Del(16Es2el-Ufd1l)217Bld	J:190908 J:201966	View
Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd * C57BL/6	J:57757	View

DiGeorge syndrome

IDs

DiGeorge syndrome      

DOID:11198
ICD10CM:D82.1
ICD9CM:279.11
MESH:D004062
NCI:C2989
OMIM:188400
UMLS_CUI:C0012236

View 1 model

Mouse Models

Human Disease Modeled: DiGeorge syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd * C57BL/6	J:57757	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  3 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  21 phenotypes from 1 allele in 4 genetic backgrounds
  13 phenotypes from multigenic genotypes
  28 phenotype references
  

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

This 1.2 Mb deletion, extending distally from Es2el to Ufd1l, recapitulates the human deletion del22q11 associated with DiGeorge syndrome. Heterozygous mutant mice exhibit cardiovascular defects similar to the most clinically severe aspects of DiGeorge syndrome.

References

• Summaries
  All 30

  Diseases 3

  Phenotypes 28
• Earliest
  J:57757 Lindsay EA, et al., Congenital heart disease in mice deficient for the DiGeorge syndrome region [see comments]. Nature. 1999 Sep 23;401(6751):379-83
• Latest
  J:342026 Hasegawa Y, et al., Microglial cannabinoid receptor type 1 mediates social memory deficits in mice produced by adolescent THC exposure and 16p11.2 duplication. Nat Commun. 2023 Oct 25;14(1):6559