Rd3^rd3
Spontaneous Allele Detail

Summary

• Symbol: Rd3^rd3
• Name: retinal degeneration 3
• MGI ID: MGI:1857014
• Gene: Rd3 Location: Chr1:191709331-191720244 bp, + strand Genetic Position: Chr1, 97.09 cM, cytoband H6
• Alliance: Rd3^rd3 page

Mutation origin

• Strain of Origin: RBF/DnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Mutation details: A C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded. (J:122439)
• Inheritance: Recessive

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: 4 strains available Cell Lines: 0 lines available
• Carrying any Rd3 Mutation: 21 strains or lines available

Notes

This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367).

References

• Original: J:4367 Chang B, et al., New mouse primary retinal degeneration (rd-3). Genomics. 1993 Apr;16(1):45-9
• All: 17 reference(s)