Sftpctm2.1Mfbs
Targeted Allele Detail
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Symbol: |
Sftpctm2.1Mfbs |
Name: |
surfactant associated protein C; targeted mutation 2.1, Michael F Beers |
MGI ID: |
MGI:7550839 |
Synonyms: |
SftpcC121G |
Gene: |
Sftpc Location: Chr14:70758389-70761521 bp, - strand Genetic Position: Chr14, 36.32 cM
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Alliance: |
Sftpctm2.1Mfbs page
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Germline Transmission: |
Earliest citation of germline transmission:
J:279196
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
Not Specified
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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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 neo cassette was removed through subsequent Cre-mediated recombination. 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.
(J:279196)
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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
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Carrying any Sftpc Mutation: |
23 strains or lines available
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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: |
1 reference(s) |
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