Sftpc^tm3.1Mfbs
Targeted Allele Detail

Summary

• Symbol: Sftpc^tm3.1Mfbs
• Name: surfactant associated protein C; targeted mutation 3.1, Michael F Beers
• MGI ID: MGI:7561920
• Synonyms: Sftpc^C185G
• Gene: Sftpc Location: Chr14:70758389-70761521 bp, - strand Genetic Position: Chr14, 36.32 cM
• Alliance: Sftpc^tm3.1Mfbs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:335487
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Cysteine codon 185 (TGT) in exon 5 was changed to glycine (GGT) (p.C185G) and a loxP site flanked neomycin resistance gene was inserted into intron 4. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation, in the BRICHOS domain of the encoded peptide, prevents the formation of the disulfide bridge with C121 that is essential for correct folding of the pro-protein and associates with respiratory failure in neonate, interstitial lung disease in children, and fibrotic remodeling in adults. (J:335487)

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 Sftpc Mutation: 26 strains or lines available

References

• Original: J:335487 Katzen J, et al., Disruption of proteostasis causes IRE1 mediated reprogramming of alveolar epithelial cells. Proc Natl Acad Sci U S A. 2022 Oct 25;119(43):e2123187119
• All: 1 reference(s)