Prph2^Nmf193
Chemically induced Allele Detail

Summary

• Symbol: Prph2^Nmf193
• Name: peripherin 2; neuroscience mutagenesis facility, 193
• MGI ID: MGI:3038638
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^Nmf193 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen. A T-to-A mutation was identified in the exon 1 splice donor site leading to the inappropriate use of a downstream splice donor site. 25 extra nucleotides were included in the mRNA before splicing to the proper splice acceptor site in exon 2. This resulted in a frameshift and the incorporation of 49 missense amino acids before premature truncation of the protein occurred. In homozygote mice, no full-length or truncated protein was detected in retinal extracts. Heterozygote mice had a significant reduction of full-length protein in their retinas compared to wild-type controls. (J:148636)
• Inheritance: Dominant

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Prph2 Mutation: 28 strains or lines available

References

• Original: J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7
• All: 3 reference(s)