Del(1)1Brk Cytogenetic Marker Detail

Summary

• Symbol
  Del(1)1Brk
• Name
  deletion, Chr 1, Jane Barker 1
• Synonyms
  nm1054

• Feature Type
  chromosomal deletion
• IDs
  MGI:3608907

Location &
Maps

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

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

Human Diseases

• Diseases
  1 with Del(1)1Brk mouse models

Human Disease

Mouse Models

primary ciliary dyskinesia

IDs

primary ciliary dyskinesia      

DOID:9562
DOID:2925
MESH:D002925
NCI:C84638
OMIM:PS244400
ORDO:244
UMLS_CUI:C0008780

View 1 model

Mouse Models

Human Disease Modeled: primary ciliary dyskinesia

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(1)1Brk/Del(1)1Brk	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	J:130396	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
  49 phenotypes from 1 allele in 4 genetic backgrounds
  13 phenotypes from multigenic genotypes
  10 phenotype references
  

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

Homozygotes for this spontaneous deletion exhibit hypochromic, microcytic anemia associated with impaired iron uptake, small body size, and male infertility. Survival and hydroencephaly formation are sensitive to genetic background.

References

• Summaries
  All 11

  Diseases 1

  Phenotypes 10
• Earliest
  J:100202 Ohgami RS, et al., nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood. 2005 Nov 15;106(10):3625-31
• Latest
  J:394222 McKenzie CW, et al., Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects. Sci Rep. 2024 Nov 18;14(1):28437