Rpgr^Rd9
Spontaneous Allele Detail

Summary

• Symbol: Rpgr^Rd9
• Name: retinitis pigmentosa GTPase regulator; retinal degeneration 9
• MGI ID: MGI:3511481
• Gene: Rpgr Location: ChrX:10024455-10083034 bp, - strand Genetic Position: ChrX, 4.62 cM
• Alliance: Rpgr^Rd9 page

Blond appearance of fundus and telangiectasia and vessel leakage in Rpgr^Rd9/Y and Rpgr^Rd9/Rpgr^Rd9 eyes while Rpgr^Rd9/Rpgr⁺ females show only diffuse white spots

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Duplication
• Mutation details: Sequence analysis identified a 32-bp duplication in the alternatively-spliced exon ORF15. The duplication produces a frame shift in the repetitive region of ORF15 that introduces a premature-stop codon, and is predicted to result in a truncated protein in which the C-terminal 108 amino acids are unrelated to the wild-type protein and are predominantly basic. RT-PCR confirmed expression of both the constitutive variant encoding exons 1-19 and the isoform encoding exons 1-13 and ORF15. However, the ORF15 isoform protein is not detected in immunoblot of retinal extracts or connecting cilia, while wild-type levels of the constitutive isoform Rpgr 1-19 are present in retinal lysates and are decreased in photoreceptor cells. (J:237833)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Rpgr Mutation: 10 strains or lines available

Notes

Rd9 is an X-linked semidominant retinal degeneration model. In Rd9 mutants, the retina is covered with diffuse white spots (mottled). The fundus appears normal at weaning age and the retina becomes mottled starting at 6 weeks of age in heterozygous females. The fundus of homozygous females and hemizygous males have a blond appearance. Retinal pigment loss and electroretinogram response decreases with age (J:75095).

References

• Original: J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
• All: 10 reference(s)