Cfh^tm2Song
Targeted Allele Detail

Summary

• Symbol: Cfh^tm2Song
• Name: complement component factor h; targeted mutation 2, Wen-Chao Song
• MGI ID: MGI:7562052
• Synonyms: fH^m
• Gene: Cfh Location: Chr1:140013593-140111149 bp, - strand Genetic Position: Chr1, 61.62 cM, cytoband F
• Alliance: Cfh^tm2Song page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:264171
• Parent Cell Line: TL1/TL-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Two stop codons were introduced to the beginning of short consensus repeat domain 19 (SCR19) generating a TCAACA to TAATGA change in exon 19. An FRT site, neomycin selection cassette, loxP site and second FRT site were inserted upstream of exon 19. Homozygous mice show low levels of Cfh RNA in the liver and only a small amount of truncated protein is detected in the plasma. (J:264171)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cfh Mutation: 98 strains or lines available

References

• Original: J:264171 Lesher AM, et al., Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. J Am Soc Nephrol. 2013 Jan;24(1):53-65
• All: 4 reference(s)