Rp1^m1Jdun
Spontaneous Allele Detail

Summary

• Symbol: Rp1^m1Jdun
• Name: retinitis pigmentosa 1 (human); mutation 1, Joshua L Dunaief
• MGI ID: MGI:5604910
• Gene: Rp1 Location: Chr1:4185896-4479508 bp, - strand Genetic Position: Chr1, 1.65 cM
• Alliance: Rp1^m1Jdun page

Mutation origin

• Strain of Origin: C57BL/6-Il4^tm1Nnt/JJdun

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Mutation details: Sequencing of the cDNA revealed two adjacent missense mutations T402C and G403T, resulting in a leucine-to-proline change in amino acid 66 (L66P) in the first doublecortin (DCX) domain of exon 2. Western blot analysis indicates normal quantity and size of the mutant protein, however, immunohistochemistry shows that the protein partially mislocalizes to the transition zone of the shortened axonemes of photoreceptors. (J:214837)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Rp1 Mutation: 121 strains or lines available

References

• Original: J:214837 Song D, et al., A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol. 2014 Oct;184(10):2721-9
• All: 2 reference(s)