Prss8<fr> Spontaneous Allele Detail MGI Mouse (MGI:1856875)

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:

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

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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)

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