| Primary Identifier | MGI:7550890 | Allele Type | Targeted |
| Attribute String | Hypomorph | Gene | Sftpc |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
