Prss8^fr
Spontaneous Allele Detail

Summary

• Symbol: Prss8^fr
• Name: serine protease 8 (prostasin); frizzy
• MGI ID: MGI:1856875
• Gene: Prss8 Location: Chr7:127524889-127529266 bp, - strand Genetic Position: Chr7, 69.84 cM
• Alliance: Prss8^fr page

Mutation origin

• Strain of Origin: DBA x Tyr^c-ch Oca2^p Myo7a^sh1

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A T-to-A transversion in exon 4 changes a highly conserved non-polar valine at position 170 to a fully charged aspartate residue (p.V170D). Expression levels of the mutant protein are similar to expression levels of the wild-type protein. An enteropeptidase activated recombinant version of this mutant protien displays a low residual enzymatic activity for a fluorogenic peptide substrate. (J:159896, J:188121)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 13 strains available Cell Lines: 0 lines available
• Carrying any Prss8 Mutation: 24 strains or lines available

References

• Original: J:64269 Snell GD, fr - frizzy. Mouse News Lett. 1951;5:36
• All: 10 reference(s)