b2b370Clo Gene Detail

Summary

• Symbol
  b2b370Clo
• Name
  Mutant line 370

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:5311361
• Alliance
  gene page

Location &
Maps

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

• Genetic Map
  Chromosome Unknown

Human Diseases

• Diseases
  1 with b2b370Clo 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
b2b370Clo/b2b370Clo	C57BL/6J-b2b370Clo	J:175213	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
  18 images
  2 phenotype references
  

• All Mutations and Alleles
  1
• Chemically induced (ENU)
  1
• Find Mice (IMSR)
  1 strains or lines available

More than one mutation in this ENU line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 2
• Earliest
  J:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4