Cfh^tm1.1Song
Targeted Allele Detail

Summary

• Symbol: Cfh^tm1.1Song
• Name: complement component factor h; targeted mutation 1.1, Wen-Chao Song
• MGI ID: MGI:6314797
• Synonyms: FH^R, FH^W1206R
• Gene: Cfh Location: Chr1:140013593-140111149 bp, - strand Genetic Position: Chr1, 61.62 cM, cytoband F
• Alliance: Cfh^tm1.1Song page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240426
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A T to A single nucleotide mutation was introduced by site-directed mutagenesis resulting in a tryptophan (W) to arginine (R) mutation at amino acid 1206. An FRT-flanked neomycin selection cassette was inserted upstream of exon 22 and was removed via Flp-mediated recombination. The W1206R change in mouse corresponds to the W1183R mutation found in families with atypical hemolytic uremic syndrome. Western blot analysis of plasma indicates that protein levels are higher (115%) than the normal protein levels in wild-type mice. (J:240426)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 95 strains or lines available

References

• Original: J:240426 Ueda Y, et al., Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. Blood. 2017 Mar 02;129(9):1184-1196
• All: 5 reference(s)