bpck Complex/Cluster/Region Detail

Summary

• Symbol
  bpck
• Name
  bilateral polycystic kidney deletion region

• Feature Type
  complex/cluster/region
• IDs
  MGI:2183341

Location &
Maps

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

• Genetic Map
  Chromosome 4, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with bpck mouse models

Human Disease

Mouse Models

Meckel syndrome

IDs

Meckel syndrome      

DOID:0050778
ICD9CM:753.1
ICD9CM:753.10
OMIM:PS249000
ORDO:564
UMLS_CUI:C0311245

View 1 model

Mouse Models

Human Disease Modeled: Meckel syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
bpck/bpck	B6C3Fe a/a-bpck/J	J:144929	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
  16 phenotypes from 1 allele in 1 genetic background
  4 phenotype references
  

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

References

• Summaries
  All 4

  Diseases 1

  Phenotypes 4
• Earliest
  J:144929 Cook SA, et al., A Mouse Model for Meckel Syndrome Type 3. J Am Soc Nephrol. 2009 Apr;20(4):753-64
• Latest
  J:282558 Collin GB, et al., Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931