Sftpc^tm2Mfbs
Targeted Allele Detail

Summary

• Symbol: Sftpc^tm2Mfbs
• Name: surfactant associated protein C; targeted mutation 2, Michael F Beers
• MGI ID: MGI:7550838
• Synonyms: Sftpc^C121Gneo
• Gene: Sftpc Location: Chr14:70758389-70761521 bp, - strand Genetic Position: Chr14, 36.32 cM
• Alliance: Sftpc^tm2Mfbs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:279196
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Cysteine codon 121 (TGC) in exon 4 was changed to glycine (GGC) (p.C121G) and a loxP site flanked neomycin resistance gene was inserted into intron 4. The mutation, in the BRICHOS domain of the encoded peptide, is associated with severe human neonatal respiratory failure and prevents the formation of the disulfide bridge with C185 that is essential for correct folding of the pro-protein. The neo cassette interferes with the expression of the gene and mRNA expression is at 6% and no peptide expression is detected. (J:279196)

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: 22 strains or lines available

References

• Original: J:279196 Katzen J, et al., An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis. JCI Insight. 2019 Mar 21;4(6)
• All: 2 reference(s)