C3^tm1.2Ozg
Targeted Allele Detail

Summary

• Symbol: C3^tm1.2Ozg
• Name: complement component 3; targeted mutation 1.2, Ozgene
• MGI ID: MGI:8460701
• Synonyms: C3^D1115N, C3KI, C3^{Tm1(D1115N)Oz}
• Gene: C3 Location: Chr17:57510970-57535136 bp, - strand Genetic Position: Chr17, 29.72 cM, cytoband E1-E3
• Alliance: C3^tm1.2Ozg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:295266
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Constitutively active)
• Mutations: Insertion, Single point mutation
• Mutation details:

  A loxP site, cDNA sequence for exons 26-41, poly(A) signal sequences, an FRT site flanked neomycin resistance gene cassette, and a second loxP site were inserted into intron 25, Endogenous exon 26 was modified where aspartic acid codon 1115 (GAT) was changed to asparagine (AAT) (p.D1115N). The neo cassette was removed through subsequent Flp-mediated recombination and the inserted wild-type sequence was deleted through subsequent Cre-mediated recombination. This allele expresses the modified protein. The mutation is the equivalent of the same human gain-of-function mutation associated with atypical hemolytic uremic syndrome (aHUS). (J:295266)

Expression

In Structures Affected by this Mutation:

2 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 C3 Mutation: 104 strains or lines available

References

• Original: J:295266 Smith-Jackson K, et al., Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice. J Clin Invest. 2019 Mar 1;129(3):1061-1075
• All: 2 reference(s)