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Allele : Sftpc<tm3.1Mfbs> surfactant associated protein C; targeted mutation 3.1, Michael F Beers

Primary Identifier  MGI:7561920 Allele Type  Targeted
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 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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Sftpc<C185G>,
  • Sftpc<C185G>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories