Del(5Gtf2i-Fkbp6)1Vcam Cytogenetic Marker Detail

Summary

• Symbol
  Del(5Gtf2i-Fkbp6)1Vcam
• Name
  deletion, Chr5, Victoria Campuzano 1

• Feature Type
  chromosomal deletion
• IDs
  MGI:5555957

Location &
Maps

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

• Genetic Map
  Chromosome 5, Syntenic

Human Diseases

• Diseases
  1 with Del(5Gtf2i-Fkbp6)1Vcam mouse models

Human Disease

Mouse Models

Williams-Beuren syndrome

IDs

Williams-Beuren syndrome      

DOID:1928
ICD10CM:Q93.82
MESH:D018980
NCI:C85232
OMIM:194050
UMLS_CUI:C0175702

View 1 model

Mouse Models

Human Disease Modeled: Williams-Beuren syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(5Gtf2i-Fkbp6)1Vcam/+	B6.129-Del(5Gtf2i-Fkbp6)1Vcam(J:204278)	J:216195	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
  28 phenotypes from 1 allele in 1 genetic background
  8 phenotype references
  

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

References

• Summaries
  All 9

  Diseases 1

  Phenotypes 8
• Earliest
  J:216195 Segura-Puimedon M, et al., Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Hum Mol Genet. 2014 Dec 15;23(24):6481-94
• Latest
  J:337436 Abdalla N, et al., Dysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model. Int J Mol Sci. 2023 Jun 13;24(12)