Del(16Pi4ka-Hira)1Atai Cytogenetic Marker Detail

Summary

• Symbol
  Del(16Pi4ka-Hira)1Atai
• Name
  deletion, Chr 16, Atsu Aiba 1

• Feature Type
  chromosomal deletion
• IDs
  MGI:6729273

Location &
Maps

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

• Genetic Map
  Chromosome 16, Syntenic

Human Diseases

• Diseases
  1 with Del(16Pi4ka-Hira)1Atai 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 1 model

Mouse Models

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

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(16Pi4ka-Hira)1Atai/+	C57BL/6N-Del(16Pi4ka-Hira)1Atai	J:285407	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
  15 phenotypes from 1 allele in 1 genetic background
  4 phenotype references
  

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

References

• Summaries
  All 5

  Diseases 1

  Phenotypes 4
• Earliest
  J:285407 Saito R, et al., Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus. Transl Psychiatry. 2020 Feb 5;10(1):35
• Latest
  J:359574 Eom TY, et al., Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. Nat Commun. 2024 Dec 5;15(1):10510