| Primary Identifier | MGI:7550838 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph | Gene | Sftpc |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
