Prss8^em1Bug
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prss8^em1Bug
• Name: serine protease 8 (prostasin); endonuclease-mediated mutation 1, Thomas H Bugge
• MGI ID: MGI:6446228
• Synonyms: Prss8^R44Q, Prss8^zym
• Gene: Prss8 Location: Chr7:127524889-127529266 bp, - strand Genetic Position: Chr7, 69.84 cM
• Alliance: Prss8^em1Bug page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: A 2 kb donor or template DNA sequence, containing the desired GC-to-AG mutation to change arginine 44 to glutamine (p.R44Q) in exon 3, was used with ZNF nuclease 5'-TGCCGTCATCCAGCCACGCATCACCGGTGGTGGCAGTG-3' to create this zymogen-locked allele. The point mutation prevents the inactive zymogen pro-form from being activated through proteolitic cleavage into the catalytically active protease form. RT-PCR, Western blots and immunohistochemistry showed that transcription, protein expression and protein location are not affected. (J:231031)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(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 Prss8 Mutation: 24 strains or lines available

References

• Original: J:231031 Friis S, et al., Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin. J Biol Chem. 2016 Feb 5;291(6):2577-82
• All: 3 reference(s)