Prph2^Rd2
Spontaneous Allele Detail

Summary

• Symbol: Prph2^Rd2
• Name: peripherin 2; retinal degeneration 2
• MGI ID: MGI:1856523
• Synonyms: Prph2^Rds, Rd-2, rds, rds-, Rds, Rds^Rd2, retinal degeneration slow
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^Rd2 page

Mutation origin

• Strain of Origin: O20/A

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: The mutation is an insertion of approximately 10 kb in the gene after nucleotide 899 (numbering of the encoded mRNA), disrupting the protein coding sequence in exon 2. The inserted DNA was similar to both the TSE of mice, repeated elements found in the H2 complex, and to the mouse early transposon (ETn). Northern blot analysis demonstrated that an aberrant 12 kb transcript was produced from this allele, although at reduced levels compared to wild-type. This allele is predicted to encode a truncated protein with its carboxy terminal 116 amino acids replaced by 35 amino acids from sequences in the insertion. Mutant mice doubly homozygous for two retinal degeneration mutations (Pde6b^rd1 and Rds^Rd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6b^rd1 and Rds^Rd2. (J:2579, J:9635)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Prph2 Mutation: 28 strains or lines available

References

• Original: J:65320 Hilgers J, Prph2^Rd2 - retinal degeneration-2. Mouse News Lett. 1979;60:38
• All: 115 reference(s)