Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Prss8fr
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:	Prss8fr page

Strain of Origin:

DBA x Tyrc-ch Oca2p Myo7ash1

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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

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