Sftpc^tm3Mfbs
Targeted Allele Detail

Summary

• Symbol: Sftpc^tm3Mfbs
• Name: surfactant associated protein C; targeted mutation 3, Michael F Beers
• MGI ID: MGI:7550890
• Synonyms: Sftpc^C185Gneo
• Gene: Sftpc Location: Chr14:70758389-70761521 bp, - strand Genetic Position: Chr14, 36.32 cM
• Alliance: Sftpc^tm3Mfbs 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 (Hypomorph)
• 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 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. The neo cassette interferes with the expression of the gene and no peptide expression is detected. (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)