Sftpc^tm1.1Twv
Targeted Allele Detail

Summary

• Symbol: Sftpc^tm1.1Twv
• Name: surfactant associated protein C; targeted mutation 1.1, Timothy E Weaver
• MGI ID: MGI:7506448
• Synonyms: L184Q, LQ
• Gene: Sftpc Location: Chr14:70758389-70761521 bp, - strand Genetic Position: Chr14, 36.32 cM
• Alliance: Sftpc^tm1.1Twv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:313007
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: The following elements were inserted immediately downstream of exon 1: coding cDNA sequence for exons 2-5 where exon 5 has a T-to-A point mutation changing leucine codon 184 to glutamine (p.L184Q), triple stop codons, bovine growth hormone gene poly(A) signal sequences and a loxP site flanked neomycin resistance gene cassette. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation mimics the p.L188Q human mutation associated with lung disease. (J:313007)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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: 26 strains or lines available

References

• Original: J:313007 Sitaraman S, et al., Surfactant protein C mutation links postnatal type 2 cell dysfunction to adult disease. JCI Insight. 2021 Jul 22;6(14)
• All: 1 reference(s)