Prss56^glcr4
Chemically induced Allele Detail

Summary

• Symbol: Prss56^glcr4
• Name: serine protease 56; glaucoma relevant mutation 4
• MGI ID: MGI:5444189
• Synonyms: Grm4, Prss56^Grm4
• Gene: Prss56 Location: Chr1:87111035-87116127 bp, + strand Genetic Position: Chr1, 44.07 cM, cytoband C5
• Alliance: Prss56^glcr4 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a T to A transversion in exon 11, disrupting a splice donor site. This results in the retention of intron 11 in the transcript leading to a small insertion followed by a premature stop codon. Expression of the mRNA is higher in mutant eyes compared to wild-type eyes. (J:188765)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Prss56 Mutation: 21 strains or lines available

References

• Original: J:188765 Nair KS, et al., Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. Nat Genet. 2011 Jun;43(6):579-84
• All: 4 reference(s)