Allele/Variant

Tg(CAG-Cfh*)#Mcp

Species
Mus musculus
Symbol
Tg(CAG-Cfh*)#Mcp
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • FHdelta16-20
Description
A modified version of the CAGGS promoter drives expression of a mouse Cfh gene with a Cys937Stop mutation resulting in a truncated protein that lacks the terminal five SCR domains. The truncated protein is detected in the plasma at levels comparable to the wild-type protein. The truncated protein retained complement regulatory activity but showed impaired binding to heparin and human umbilical vein endothelial cells in vitro.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

No data available

Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated inhemolytic-uremic syndrome
  • TAS
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